Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Mode of inheritance (HP:0000005)help
..Starting node
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Autosomal dominant inheritance (HP:0000006)help
Term ID: 6
Name: Autosomal dominant inheritance
Synonym: Autosomal dominant; Autosomal dominant form; Autosomal dominant type
Definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Comments:
Reference: HP:0000006
Genes and Diseases:
 
       Child Nodes:
........expandAutosomal dominant somatic cell mutation (HP:0001444) help
........expandAutosomal dominant contiguous gene syndrome (HP:0001452) help
........expandSex-limited autosomal dominant (HP:0001470) help
................... HP:0001475 Male-limited autosomal dominant
........expandAutosomal dominant inheritance with paternal imprinting (HP:0012274) help
........expandAutosomal dominant inheritance with maternal imprinting (HP:0012275) help
........expandAutosomal dominant germline de novo mutation (HP:0025352) help

 Sister Nodes: 
..expandAutosomal recessive inheritance (HP:0000007) help
..expandContiguous gene syndrome (HP:0001466) help
..expandGenetic anticipation (HP:0003743) help
..expandGonosomal inheritance (HP:0010985) help
..expandHeterogeneous (HP:0001425) help
..expandMitochondrial inheritance (HP:0001427) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000006HP:0000006Autosomal dominant inheritance0 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0000006HP:0000006Autosomal dominant inheritance0A2M CL E G H2614036Alpha-2-macroglobulin deficiency614036C3279661OMIM1577103950
HP:0000006HP:0000006Autosomal dominant inheritance0A4GALT CL E G H53947111400p phenotype111400C0599990OMIM16118149607922
HP:0000006HP:0000006Autosomal dominant inheritance0A4GALT CL E G H53947111400p phenotype111400C0599990OMIM17118149607922
HP:0000006HP:0000006Autosomal dominant inheritance0AAGAB CL E G H79719148600Keratosis palmoplantaris papulosa148600C1835662OMIM18225662614888
HP:0000006HP:0000006Autosomal dominant inheritance0AAGAB CL E G H79719148600Keratosis palmoplantaris papulosa148600C1835662OMIM18725662614888
HP:0000006HP:0000006Autosomal dominant inheritance0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA1 CL E G H19604091Familial hypoalphalipoproteinemia604091C1704429OMIM157629600046
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA1 CL E G H19604091Familial hypoalphalipoproteinemia604091C1704429OMIM166429600046
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM15035612503
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM141245171060
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM142545171060
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H5244614972Cholestasis, intrahepatic, of pregnancy 3614972C3554241OMIM141245171060
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H5244614972Cholestasis, intrahepatic, of pregnancy 3614972C3554241OMIM142545171060
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058615402Dyschromatosis universalis hereditaria 3615402C3809394OMIM18047605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058615402Dyschromatosis universalis hereditaria 3615402C3809394OMIM18747605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM18047605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM18747605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18047605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18747605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833125853Diabetes mellitus type 2125853C0011860OMIM1112559600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833125853Diabetes mellitus type 2125853C0011860OMIM1125359600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1112559600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1125359600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM1112559600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM1125359600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833610374Transient neonatal diabetes mellitus 2610374C1835887OMIM1112559600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833610374Transient neonatal diabetes mellitus 2610374C1835887OMIM1125359600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060614050Atrial fibrillation, familial, 12614050C3279695OMIM190960601439
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060614050Atrial fibrillation, familial, 12614050C3279695OMIM1104360601439
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060608569Dilated cardiomyopathy 1O608569C1837839OMIM190960601439
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060608569Dilated cardiomyopathy 1O608569C1837839OMIM1104360601439
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM190960601439
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1104360601439
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176608361Spondyloepiphyseal dysplasia, kimberley type608361C1842149OMIM1359319155760
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176608361Spondyloepiphyseal dysplasia, kimberley type608361C1842149OMIM1456319155760
HP:0000006HP:0000006Autosomal dominant inheritance0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM122925070609377
HP:0000006HP:0000006Autosomal dominant inheritance0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM132125070609377
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1325129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1362129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59611788Aortic aneurysm, familial thoracic 6611788C2673186OMIM1362130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59611788Aortic aneurysm, familial thoracic 6611788C2673186OMIM1387130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59614042Moyamoya disease 5614042C3279690OMIM1362130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59614042Moyamoya disease 5614042C3279690OMIM1387130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59613834Multisystemic smooth muscle dysfunction syndrome613834C3151201OMIM1362130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59613834Multisystemic smooth muscle dysfunction syndrome613834C3151201OMIM1387130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70612794Atrial septal defect 5612794C2748552OMIM1507143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70612794Atrial septal defect 5612794C2748552OMIM1544143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70613424Dilated cardiomyopathy 1R613424C3150681OMIM1507143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70613424Dilated cardiomyopathy 1R613424C3150681OMIM1544143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70612098Familial hypertrophic cardiomyopathy 11612098C2677506OMIM1507143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70612098Familial hypertrophic cardiomyopathy 11612098C2677506OMIM1544143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG1 CL E G H71604717Deafness, autosomal dominant 20604717C1858172OMIM1347144102560
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG1 CL E G H71604717Deafness, autosomal dominant 20604717C1858172OMIM1370144102560
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM163145102545
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM167145102545
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN1 CL E G H87615193Platelet-type bleeding disorder 15615193C3554663OMIM1135163102575
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN1 CL E G H87615193Platelet-type bleeding disorder 15615193C3554663OMIM1139163102575
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN2 CL E G H88612158Dilated cardiomyopathy 1AA612158C2677338OMIM1880164102573
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN2 CL E G H88612158Dilated cardiomyopathy 1AA612158C2677338OMIM1973164102573
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1169166604638
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1191166604638
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1122171102576
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM1141171102576
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1305174602730
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM1315174602730
HP:0000006HP:0000006Autosomal dominant inheritance0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1590175601284
HP:0000006HP:0000006Autosomal dominant inheritance0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1655175601284
HP:0000006HP:0000006Autosomal dominant inheritance0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM13101839607575
HP:0000006HP:0000006Autosomal dominant inheritance0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM13901839607575
HP:0000006HP:0000006Autosomal dominant inheritance0ADAM10 CL E G H102615537Reticulate acropigmentation of Kitamura615537C0406811OMIM160188602192
HP:0000006HP:0000006Autosomal dominant inheritance0ADAR CL E G H103127400Symmetrical dyschromatosis of extremities127400C0406775OMIM1471225146920
HP:0000006HP:0000006Autosomal dominant inheritance0ADAR CL E G H103127400Symmetrical dyschromatosis of extremities127400C0406775OMIM1654225146920
HP:0000006HP:0000006Autosomal dominant inheritance0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0000006HP:0000006Autosomal dominant inheritance0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRE2 CL E G H30817125630Vibratory urticaria125630C1852146OMIM1413337606100
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRV1 CL E G H84059604352Febrile seizures, familial, 4604352C1858493OMIM1245917416602851
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRV1 CL E G H84059604352Febrile seizures, familial, 4604352C1858493OMIM1316817416602851
HP:0000006HP:0000006Autosomal dominant inheritance0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000006HP:0000006Autosomal dominant inheritance0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000006HP:0000006Autosomal dominant inheritance0ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM175282104260
HP:0000006HP:0000006Autosomal dominant inheritance0ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM178282104260
HP:0000006HP:0000006Autosomal dominant inheritance0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM111217869604417
HP:0000006HP:0000006Autosomal dominant inheritance0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM115717869604417
HP:0000006HP:0000006Autosomal dominant inheritance0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0000006HP:0000006Autosomal dominant inheritance0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0000006HP:0000006Autosomal dominant inheritance0AGBL1 CL E G H123624615523Corneal dystrophy, Fuchs endothelial, 8615523C3809798OMIM14726504615496
HP:0000006HP:0000006Autosomal dominant inheritance0AGBL1 CL E G H123624615523Corneal dystrophy, Fuchs endothelial, 8615523C3809798OMIM14926504615496
HP:0000006HP:0000006Autosomal dominant inheritance0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM131225230615790
HP:0000006HP:0000006Autosomal dominant inheritance0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM137325230615790
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049102200Somatotroph adenoma102200C0346302OMIM1395358605555
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049102200Somatotroph adenoma102200C0346302OMIM1487358605555
HP:0000006HP:0000006Autosomal dominant inheritance0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0000006HP:0000006Autosomal dominant inheritance0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0000006HP:0000006Autosomal dominant inheritance0AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM11108379604001
HP:0000006HP:0000006Autosomal dominant inheritance0AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM11324379604001
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207114500Carcinoma of colon114500C0699790OMIM1380391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207114500Carcinoma of colon114500C0699790OMIM1417391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM1380391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM1417391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM1380391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM1417391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208125853Diabetes mellitus type 2125853C0011860OMIM177392164731
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208125853Diabetes mellitus type 2125853C0011860OMIM194392164731
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM177392164731
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM194392164731
HP:0000006HP:0000006Autosomal dominant inheritance0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1228393611223
HP:0000006HP:0000006Autosomal dominant inheritance0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1249393611223
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13469722138250
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13929722138250
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13469722138250
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13929722138250
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH2 CL E G H217610251Acute alcohol sensitivity610251C2674838OMIM139404100650
HP:0000006HP:0000006Autosomal dominant inheritance0ALPL CL E G H249146300Adult hypophosphatasia146300C0268413OMIM1575438171760
HP:0000006HP:0000006Autosomal dominant inheritance0ALPL CL E G H249146300Adult hypophosphatasia146300C0268413OMIM1671438171760
HP:0000006HP:0000006Autosomal dominant inheritance0ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1245450605420
HP:0000006HP:0000006Autosomal dominant inheritance0ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1246450605420
HP:0000006HP:0000006Autosomal dominant inheritance0ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM186483105850
HP:0000006HP:0000006Autosomal dominant inheritance0ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM191483105850
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPTL3 CL E G H27329605019Hypobetalipoproteinemia, familial, 2605019C1857970OMIM156491604774
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPTL3 CL E G H27329605019Hypobetalipoproteinemia, familial, 2605019C1857970OMIM163491604774
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPTL4 CL E G H51129615881Plasma triglyceride level quantitative trait locus615881C4014553OMIM11616039605910
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPTL4 CL E G H51129615881Plasma triglyceride level quantitative trait locus615881C4014553OMIM11716039605910
HP:0000006HP:0000006Autosomal dominant inheritance0ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1567492612641
HP:0000006HP:0000006Autosomal dominant inheritance0ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1604492612641
HP:0000006HP:0000006Autosomal dominant inheritance0ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM11677493106410
HP:0000006HP:0000006Autosomal dominant inheritance0ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM11878493106410
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H56172118600Chondrocalcinosis 2118600C0856830OMIM141015492605145
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H56172118600Chondrocalcinosis 2118600C0856830OMIM143615492605145
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM141015492605145
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM143615492605145
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1110121316611192
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1118421316611192
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD26 CL E G H22852188000Thrombocytopenia 2188000C1861185OMIM134929186610855
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD26 CL E G H22852188000Thrombocytopenia 2188000C1861185OMIM139929186610855
HP:0000006HP:0000006Autosomal dominant inheritance0ANLN CL E G H54443616032Focal segmental glomerulosclerosis 8616032C4014993OMIM116814082616027
HP:0000006HP:0000006Autosomal dominant inheritance0ANLN CL E G H54443616032Focal segmental glomerulosclerosis 8616032C4014993OMIM122414082616027
HP:0000006HP:0000006Autosomal dominant inheritance0ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM130714004610110
HP:0000006HP:0000006Autosomal dominant inheritance0ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM132714004610110
HP:0000006HP:0000006Autosomal dominant inheritance0ANO5 CL E G H203859166260Gnathodiaphyseal dysplasia166260C1833736OMIM178627337608662
HP:0000006HP:0000006Autosomal dominant inheritance0ANO5 CL E G H203859166260Gnathodiaphyseal dysplasia166260C1833736OMIM190027337608662
HP:0000006HP:0000006Autosomal dominant inheritance0AP2S1 CL E G H1175600740Hypocalciuric hypercalcemia, familial, type III600740C1833372OMIM153565602242
HP:0000006HP:0000006Autosomal dominant inheritance0AP2S1 CL E G H1175600740Hypocalciuric hypercalcemia, familial, type III600740C1833372OMIM161565602242
HP:0000006HP:0000006Autosomal dominant inheritance0AP4E1 CL E G H23431184450Stuttering, familial persistent 1184450C3489627OMIM1238573607244
HP:0000006HP:0000006Autosomal dominant inheritance0AP4E1 CL E G H23431184450Stuttering, familial persistent 1184450C3489627OMIM1332573607244
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324114500Carcinoma of colon114500C0699790OMIM19051583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324114500Carcinoma of colon114500C0699790OMIM19963583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324135290Desmoid disease, hereditary135290C1851124OMIM19051583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324135290Desmoid disease, hereditary135290C1851124OMIM19963583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324175100Familial adenomatous polyposis 1175100C2713442OMIM19051583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324175100Familial adenomatous polyposis 1175100C2713442OMIM19963583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324114550Hepatocellular carcinoma114550C2239176OMIM19051583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324114550Hepatocellular carcinoma114550C2239176OMIM19963583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APCDD1 CL E G H147495605389Hypotrichosis simplex605389C1854310OMIM111715718607479
HP:0000006HP:0000006Autosomal dominant inheritance0APCDD1 CL E G H147495605389Hypotrichosis simplex605389C1854310OMIM112115718607479
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335604091Familial hypoalphalipoproteinemia604091C1704429OMIM199600107680
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335604091Familial hypoalphalipoproteinemia604091C1704429OMIM1126600107680
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM199600107680
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1126600107680
HP:0000006HP:0000006Autosomal dominant inheritance0APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM15417288606368
HP:0000006HP:0000006Autosomal dominant inheritance0APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM16217288606368
HP:0000006HP:0000006Autosomal dominant inheritance0APOB CL E G H338144010Hypercholesterolemia, autosomal dominant, type B144010C1704417OMIM12340603107730
HP:0000006HP:0000006Autosomal dominant inheritance0APOB CL E G H338144010Hypercholesterolemia, autosomal dominant, type B144010C1704417OMIM12465603107730
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348104310Alzheimer disease 2104310C1863051OMIM178613107741
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348104310Alzheimer disease 2104310C1863051OMIM180613107741
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348606889Alzheimer disease, type 4606889C1847200OMIM178613107741
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348606889Alzheimer disease, type 4606889C1847200OMIM180613107741
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351104300Alzheimer's disease104300C0002395OMIM1320620104760
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351104300Alzheimer's disease104300C0002395OMIM1364620104760
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351605714Cerebral amyloid angiopathy, APP-related605714C2751536OMIM1320620104760
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351605714Cerebral amyloid angiopathy, APP-related605714C2751536OMIM1364620104760
HP:0000006HP:0000006Autosomal dominant inheritance0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1239634107777
HP:0000006HP:0000006Autosomal dominant inheritance0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1247634107777
HP:0000006HP:0000006Autosomal dominant inheritance0AQP5 CL E G H362600231Diffuse palmoplantar keratoderma, Bothnian type600231C1838359OMIM141638600442
HP:0000006HP:0000006Autosomal dominant inheritance0AQP5 CL E G H362600231Diffuse palmoplantar keratoderma, Bothnian type600231C1838359OMIM147638600442
HP:0000006HP:0000006Autosomal dominant inheritance0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000006HP:0000006Autosomal dominant inheritance0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGAP26 CL E G H23092607785Juvenile myelomonocytic leukemia607785C0349639OMIM14117073605370
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGEF10 CL E G H9639608236Slowed nerve conduction velocity, autosomal dominant608236C1842357OMIM132414103608136
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGEF10 CL E G H9639608236Slowed nerve conduction velocity, autosomal dominant608236C1842357OMIM141214103608136
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000006HP:0000006Autosomal dominant inheritance0ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18825781615549
HP:0000006HP:0000006Autosomal dominant inheritance0ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18925781615549
HP:0000006HP:0000006Autosomal dominant inheritance0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1420735613468
HP:0000006HP:0000006Autosomal dominant inheritance0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1593735613468
HP:0000006HP:0000006Autosomal dominant inheritance0ASB10 CL E G H136371603383Glaucoma 1, open angle, F603383C1863926OMIM115517185615054
HP:0000006HP:0000006Autosomal dominant inheritance0ASB10 CL E G H136371603383Glaucoma 1, open angle, F603383C1863926OMIM116317185615054
HP:0000006HP:0000006Autosomal dominant inheritance0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM132738100790
HP:0000006HP:0000006Autosomal dominant inheritance0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM115619088607999
HP:0000006HP:0000006Autosomal dominant inheritance0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM117319088607999
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0000006HP:0000006Autosomal dominant inheritance0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000006HP:0000006Autosomal dominant inheritance0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM131011231606439
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM135611231606439
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM131011231606439
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM135611231606439
HP:0000006HP:0000006Autosomal dominant inheritance0ATL3 CL E G H25923615632Hereditary sensory neuropathy type IF615632C3810194OMIM122024526609369
HP:0000006HP:0000006Autosomal dominant inheritance0ATL3 CL E G H25923615632Hereditary sensory neuropathy type IF615632C3810194OMIM126624526609369
HP:0000006HP:0000006Autosomal dominant inheritance0ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM1963033607462
HP:0000006HP:0000006Autosomal dominant inheritance0ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM11033033607462
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1726800182340
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1801800182340
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1726800182340
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1801800182340
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1625801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1687801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1625801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1687801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488101900Acrokeratosis verruciformis of Hopf101900C0265971OMIM1180812108740
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488101900Acrokeratosis verruciformis of Hopf101900C0265971OMIM1184812108740
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488124200Keratosis follicularis124200C0022595OMIM1180812108740
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488124200Keratosis follicularis124200C0022595OMIM1184812108740
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2C1 CL E G H27032169600Familial benign pemphigus169600C0085106OMIM116013211604384
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2C1 CL E G H27032169600Familial benign pemphigus169600C0085106OMIM116413211604384
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1115854606939
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1118854606939
HP:0000006HP:0000006Autosomal dominant inheritance0ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14943706602397
HP:0000006HP:0000006Autosomal dominant inheritance0ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM14963706602397
HP:0000006HP:0000006Autosomal dominant inheritance0ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM1755882601215
HP:0000006HP:0000006Autosomal dominant inheritance0ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM11007882601215
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13710560607640
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13910560607640
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17210561603680
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17610561603680
HP:0000006HP:0000006Autosomal dominant inheritance0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0000006HP:0000006Autosomal dominant inheritance0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0000006HP:0000006Autosomal dominant inheritance0AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM176894192340
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN1 CL E G H8312114550Hepatocellular carcinoma114550C2239176OMIM183903603816
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN1 CL E G H8312114550Hepatocellular carcinoma114550C2239176OMIM184903603816
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313114500Carcinoma of colon114500C0699790OMIM11893904604025
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313114500Carcinoma of colon114500C0699790OMIM12161904604025
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313608615Oligodontia-colorectal cancer syndrome608615C1837750OMIM11893904604025
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313608615Oligodontia-colorectal cancer syndrome608615C1837750OMIM12161904604025
HP:0000006HP:0000006Autosomal dominant inheritance0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM178905109135
HP:0000006HP:0000006Autosomal dominant inheritance0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM187905109135
HP:0000006HP:0000006Autosomal dominant inheritance0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM132914109700
HP:0000006HP:0000006Autosomal dominant inheritance0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM139914109700
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531613881Dilated cardiomyopathy 1HH613881C3151293OMIM1603939603883
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531613881Dilated cardiomyopathy 1HH613881C3151293OMIM1738939603883
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0000006HP:0000006Autosomal dominant inheritance0BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11514950603089
HP:0000006HP:0000006Autosomal dominant inheritance0BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11683950603089
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112513221606557
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112913221606557
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0000006HP:0000006Autosomal dominant inheritance0BCO1 CL E G H53630115300Hypercarotenemia and vitamin a deficiency, autosomal dominant115300C2676023OMIM110113815605748
HP:0000006HP:0000006Autosomal dominant inheritance0BCO1 CL E G H53630115300Hypercarotenemia and vitamin a deficiency, autosomal dominant115300C2676023OMIM110313815605748
HP:0000006HP:0000006Autosomal dominant inheritance0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP1 CL E G H631611391Cataract 33, multiple types611391C3808107OMIM11131040603307
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP1 CL E G H631611391Cataract 33, multiple types611391C3808107OMIM11181040603307
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM1991041603212
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM11051041603212
HP:0000006HP:0000006Autosomal dominant inheritance0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM144517208609797
HP:0000006HP:0000006Autosomal dominant inheritance0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM150617208609797
HP:0000006HP:0000006Autosomal dominant inheritance0BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM13191057191305
HP:0000006HP:0000006Autosomal dominant inheritance0BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM13461057191305
HP:0000006HP:0000006Autosomal dominant inheritance0BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM1291062109750
HP:0000006HP:0000006Autosomal dominant inheritance0BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11931068300247
HP:0000006HP:0000006Autosomal dominant inheritance0BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM11961068300247
HP:0000006HP:0000006Autosomal dominant inheritance0BMP2 CL E G H650112600Type A2 brachydactyly112600C1832702OMIM1921069112261
HP:0000006HP:0000006Autosomal dominant inheritance0BMP2 CL E G H650112600Type A2 brachydactyly112600C1832702OMIM11111069112261
HP:0000006HP:0000006Autosomal dominant inheritance0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM11121071112262
HP:0000006HP:0000006Autosomal dominant inheritance0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM11291071112262
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H657610069Hereditary mixed polyposis syndrome 2610069C1864730OMIM114551076601299
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H657610069Hereditary mixed polyposis syndrome 2610069C1864730OMIM116331076601299
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114551076601299
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM116331076601299
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM12511077603248
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM12731077603248
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H658112600Type A2 brachydactyly112600C1832702OMIM12511077603248
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H658112600Type A2 brachydactyly112600C1832702OMIM12731077603248
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM18461078600799
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM18961078600799
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H659265450Pulmonary veno-occlusive disease265450C0034091OMIM18461078600799
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H659265450Pulmonary veno-occlusive disease265450C0034091OMIM18961078600799
HP:0000006HP:0000006Autosomal dominant inheritance0BMS1 CL E G H9790107600Aplasia cutis congenita107600C0282160OMIM15623505611448
HP:0000006HP:0000006Autosomal dominant inheritance0BMS1 CL E G H9790107600Aplasia cutis congenita107600C0282160OMIM15723505611448
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16181097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16801097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673211980Lung cancer211980C0684249OMIM16181097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673211980Lung cancer211980C0684249OMIM16801097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16181097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16801097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM1122071100113705
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM1125861100113705
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H675194070Wilms tumor 1194070CN033288OMIM1139121101600185
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H675194070Wilms tumor 1194070CN033288OMIM1147421101600185
HP:0000006HP:0000006Autosomal dominant inheritance0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM116014255602410
HP:0000006HP:0000006Autosomal dominant inheritance0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM117314255602410
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM133015832606158
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM137315832606158
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM133015832606158
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM137315832606158
HP:0000006HP:0000006Autosomal dominant inheritance0BUB1B CL E G H701114500Carcinoma of colon114500C0699790OMIM15111149602860
HP:0000006HP:0000006Autosomal dominant inheritance0BUB1B CL E G H701114500Carcinoma of colon114500C0699790OMIM16171149602860
HP:0000006HP:0000006Autosomal dominant inheritance0C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM141314344608752
HP:0000006HP:0000006Autosomal dominant inheritance0C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM152114344608752
HP:0000006HP:0000006Autosomal dominant inheritance0C1R CL E G H715130080Ehlers-Danlos syndrome, type 8130080C0268347OMIM1961246613785
HP:0000006HP:0000006Autosomal dominant inheritance0C1R CL E G H715130080Ehlers-Danlos syndrome, type 8130080C0268347OMIM11041246613785
HP:0000006HP:0000006Autosomal dominant inheritance0C1S CL E G H716617174Ehlers-Danlos syndrome, periodontal type, 2617174C4310681OMIM11211247120580
HP:0000006HP:0000006Autosomal dominant inheritance0C1S CL E G H716617174Ehlers-Danlos syndrome, periodontal type, 2617174C4310681OMIM12011247120580
HP:0000006HP:0000006Autosomal dominant inheritance0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116128337614260
HP:0000006HP:0000006Autosomal dominant inheritance0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116528337614260
HP:0000006HP:0000006Autosomal dominant inheritance0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM1561371603263
HP:0000006HP:0000006Autosomal dominant inheritance0CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000006HP:0000006Autosomal dominant inheritance0CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM120471388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM123261388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM120471388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM123261388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13511389601012
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13921389601012
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H775611875Brugada syndrome 3611875C2678478OMIM116581390114205
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H775611875Brugada syndrome 3611875C2678478OMIM118301390114205
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM116581390114205
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM118301390114205
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM14771391114206
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM17441391114206
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM13571394604065
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM13741394604065
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1H CL E G H8912617027Hyperaldosteronism, familial, type IV617027C4310756OMIM117071395607904
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1H CL E G H8912617027Hyperaldosteronism, familial, type IV617027C4310756OMIM120951395607904
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1S CL E G H779170400Hypokalemic periodic paralysis 1170400C3714580OMIM111541397114208
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1S CL E G H779170400Hypokalemic periodic paralysis 1170400C3714580OMIM113271397114208
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB2 CL E G H783611876Brugada syndrome 4611876C2678477OMIM15191402600003
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB2 CL E G H783611876Brugada syndrome 4611876C2678477OMIM15681402600003
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13001404601949
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM13051404601949
HP:0000006HP:0000006Autosomal dominant inheritance0CACNG2 CL E G H10369614256Mental retardation, autosomal dominant 10614256C3280284OMIM1441406602911
HP:0000006HP:0000006Autosomal dominant inheritance0CACNG2 CL E G H10369614256Mental retardation, autosomal dominant 10614256C3280284OMIM1451406602911
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H801616247Long QT syndrome 14616247C4015671OMIM1901442114180
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H801616247Long QT syndrome 14616247C4015671OMIM1941442114180
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H801614916Ventricular tachycardia, catecholaminergic polymorphic, 4614916C3554047OMIM1901442114180
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H801614916Ventricular tachycardia, catecholaminergic polymorphic, 4614916C3554047OMIM1941442114180
HP:0000006HP:0000006Autosomal dominant inheritance0CALM2 CL E G H805616249Long QT syndrome 15616249C4015695OMIM11031445114182
HP:0000006HP:0000006Autosomal dominant inheritance0CALM2 CL E G H805616249Long QT syndrome 15616249C4015695OMIM11121445114182
HP:0000006HP:0000006Autosomal dominant inheritance0CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM1391455109091
HP:0000006HP:0000006Autosomal dominant inheritance0CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM1431455109091
HP:0000006HP:0000006Autosomal dominant inheritance0CALR CL E G H811254450Myelofibrosis254450C0001815OMIM1391455109091
HP:0000006HP:0000006Autosomal dominant inheritance0CALR CL E G H811254450Myelofibrosis254450C0001815OMIM1431455109091
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM1561460114078
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM1621460114078
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0000006HP:0000006Autosomal dominant inheritance0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0000006HP:0000006Autosomal dominant inheritance0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0000006HP:0000006Autosomal dominant inheritance0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000006HP:0000006Autosomal dominant inheritance0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000006HP:0000006Autosomal dominant inheritance0CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM145016393607210
HP:0000006HP:0000006Autosomal dominant inheritance0CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM154016393607210
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H79092173200Pityriasis rubra pilaris173200C0032027OMIM152716446607211
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H79092173200Pityriasis rubra pilaris173200C0032027OMIM164616446607211
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H79092602723Psoriasis susceptibility 2602723C1864497OMIM152716446607211
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H79092602723Psoriasis susceptibility 2602723C1864497OMIM164616446607211
HP:0000006HP:0000006Autosomal dominant inheritance0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM12971500601762
HP:0000006HP:0000006Autosomal dominant inheritance0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM13461500601762
HP:0000006HP:0000006Autosomal dominant inheritance0CASP8 CL E G H841114550Hepatocellular carcinoma114550C2239176OMIM11941509601763
HP:0000006HP:0000006Autosomal dominant inheritance0CASP8 CL E G H841114550Hepatocellular carcinoma114550C2239176OMIM12301509601763
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ2 CL E G H845604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM13781513114251
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ2 CL E G H845604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM14311513114251
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM113181514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM115691514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846145980Hypocalciuric hypercalcemia, familial, type 1145980C0342637OMIM113181514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846145980Hypocalciuric hypercalcemia, familial, type 1145980C0342637OMIM115691514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM1811527601047
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM1851527601047
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13351529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13541529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859192600Familial hypertrophic cardiomyopathy 1192600C3495498OMIM13351529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859192600Familial hypertrophic cardiomyopathy 1192600C3495498OMIM13541529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859611818Long QT syndrome 9611818C2678485OMIM13351529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859611818Long QT syndrome 9611818C2678485OMIM13541529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CBFB CL E G H865601626Acute myeloid leukemia601626C0023467OMIM1421539121360
HP:0000006HP:0000006Autosomal dominant inheritance0CBFB CL E G H865601626Acute myeloid leukemia601626C0023467OMIM1431539121360
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H867607785Juvenile myelomonocytic leukemia607785C0349639OMIM17061541165360
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H867607785Juvenile myelomonocytic leukemia607785C0349639OMIM18581541165360
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM17061541165360
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM18581541165360
HP:0000006HP:0000006Autosomal dominant inheritance0CBX2 CL E G H8473361308046,XY sex reversal, type 5613080C2751317OMIM1391552602770
HP:0000006HP:0000006Autosomal dominant inheritance0CBX2 CL E G H8473361308046,XY sex reversal, type 5613080C2751317OMIM1481552602770
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM114426821616031
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM116726821616031
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM118418111611051
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM119518111611051
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM132914153614666
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM139214153614666
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM125819967611204
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM126519967611204
HP:0000006HP:0000006Autosomal dominant inheritance0CCM2 CL E G H83605603284Cerebral cavernous malformations 2603284C1864041OMIM119621708607929
HP:0000006HP:0000006Autosomal dominant inheritance0CCM2 CL E G H83605603284Cerebral cavernous malformations 2603284C1864041OMIM122321708607929
HP:0000006HP:0000006Autosomal dominant inheritance0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11101583123833
HP:0000006HP:0000006Autosomal dominant inheritance0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11171583123833
HP:0000006HP:0000006Autosomal dominant inheritance0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM1661632603356
HP:0000006HP:0000006Autosomal dominant inheritance0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM1741632603356
HP:0000006HP:0000006Autosomal dominant inheritance0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0000006HP:0000006Autosomal dominant inheritance0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0000006HP:0000006Autosomal dominant inheritance0CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11931663173510
HP:0000006HP:0000006Autosomal dominant inheritance0CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM11961663173510
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577145000Hyperparathyroidism 1145000C1840402OMIM170416783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577145000Hyperparathyroidism 1145000C1840402OMIM182816783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM170416783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM182816783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577608266Parathyroid carcinoma608266C0687150OMIM170416783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577608266Parathyroid carcinoma608266C0687150OMIM182816783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM128181748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM130461748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999137215Hereditary diffuse gastric cancer137215C1708349OMIM128181748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999137215Hereditary diffuse gastric cancer137215C1708349OMIM130461748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM128181748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM130461748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH15 CL E G H1013612580Mental retardation, autosomal dominant 3612580C2675488OMIM11791754114019
HP:0000006HP:0000006Autosomal dominant inheritance0CDH15 CL E G H1013612580Mental retardation, autosomal dominant 3612580C2675488OMIM11961754114019
HP:0000006HP:0000006Autosomal dominant inheritance0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM11911733603309
HP:0000006HP:0000006Autosomal dominant inheritance0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12101733603309
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1B CL E G H1027610755Multiple endocrine neoplasia, type 4610755C1970712OMIM15071785600778
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1B CL E G H1027610755Multiple endocrine neoplasia, type 4610755C1970712OMIM15961785600778
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM16731786600856
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM18061786600856
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM16731786600856
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM18061786600856
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM19711787600160
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM110621787600160
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0000006HP:0000006Autosomal dominant inheritance0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM148917104608707
HP:0000006HP:0000006Autosomal dominant inheritance0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM151817104608707
HP:0000006HP:0000006Autosomal dominant inheritance0CDSN CL E G H1041146520Hypotrichosis 2146520C1840299OMIM1721802602593
HP:0000006HP:0000006Autosomal dominant inheritance0CDSN CL E G H1041146520Hypotrichosis 2146520C1840299OMIM1761802602593
HP:0000006HP:0000006Autosomal dominant inheritance0CEACAM16 CL E G H388551614614Deafness, autosomal dominant 4b614614C3281297OMIM113131948614591
HP:0000006HP:0000006Autosomal dominant inheritance0CEACAM16 CL E G H388551614614Deafness, autosomal dominant 4b614614C3281297OMIM115131948614591
HP:0000006HP:0000006Autosomal dominant inheritance0CEBPA CL E G H1050601626Acute myeloid leukemia601626C0023467OMIM15001833116897
HP:0000006HP:0000006Autosomal dominant inheritance0CEBPA CL E G H1050601626Acute myeloid leukemia601626C0023467OMIM16311833116897
HP:0000006HP:0000006Autosomal dominant inheritance0CEL CL E G H1056609812Maturity-onset diabetes of the young, type 8609812C1853297OMIM11511848114840
HP:0000006HP:0000006Autosomal dominant inheritance0CEL CL E G H1056609812Maturity-onset diabetes of the young, type 8609812C1853297OMIM11641848114840
HP:0000006HP:0000006Autosomal dominant inheritance0CFC1 CL E G H55997605376Heterotaxy, visceral, 2, autosomal605376C1415817OMIM13418292605194
HP:0000006HP:0000006Autosomal dominant inheritance0CFC1 CL E G H55997605376Heterotaxy, visceral, 2, autosomal605376C1415817OMIM13618292605194
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H3075126700Basal laminar drusen126700C0730295OMIM12944883134370
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H3075126700Basal laminar drusen126700C0730295OMIM13944883134370
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H3075609814Factor H deficiency609814C0398777OMIM12944883134370
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H3075609814Factor H deficiency609814C0398777OMIM13944883134370
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR5 CL E G H81494614809CFHR5 deficiency614809C3553720OMIM114924668608593
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR5 CL E G H81494614809CFHR5 deficiency614809C3553720OMIM115624668608593
HP:0000006HP:0000006Autosomal dominant inheritance0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0000006HP:0000006Autosomal dominant inheritance0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM120515559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM123015559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM120515559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM123015559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM16021645616244
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM16721645616244
HP:0000006HP:0000006Autosomal dominant inheritance0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM111631917602119
HP:0000006HP:0000006Autosomal dominant inheritance0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM113261917602119
HP:0000006HP:0000006Autosomal dominant inheritance0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM11901919603277
HP:0000006HP:0000006Autosomal dominant inheritance0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM12171919603277
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1175220626608892
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1198020626608892
HP:0000006HP:0000006Autosomal dominant inheritance0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1259416627604373
HP:0000006HP:0000006Autosomal dominant inheritance0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1285116627604373
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM111024537609512
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM113024537609512
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP4B CL E G H128866605387Cataract, posterior polar, 3605387C1854311OMIM13216171610897
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP4B CL E G H128866605387Cataract, posterior polar, 3605387C1854311OMIM13516171610897
HP:0000006HP:0000006Autosomal dominant inheritance0CHN1 CL E G H1123604356Duane syndrome type 2604356C0751083OMIM11161943118423
HP:0000006HP:0000006Autosomal dominant inheritance0CHN1 CL E G H1123604356Duane syndrome type 2604356C0751083OMIM11171943118423
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13161955100690
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13571955100690
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15401956118502
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15891956118502
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA4 CL E G H1137600513Epilepsy, nocturnal frontal lobe, type 1600513C1838049OMIM17431958118504
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA4 CL E G H1137600513Epilepsy, nocturnal frontal lobe, type 1600513C1838049OMIM18161958118504
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM13401960118511
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM13461960118511
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM12841961100710
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13301961100710
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB2 CL E G H1141605375Epilepsy, nocturnal frontal lobe, type 3605375C1854335OMIM13771962118507
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB2 CL E G H1141605375Epilepsy, nocturnal frontal lobe, type 3605375C1854335OMIM14381962118507
HP:0000006HP:0000006Autosomal dominant inheritance0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0000006HP:0000006Autosomal dominant inheritance0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM15991966100725
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM16731966100725
HP:0000006HP:0000006Autosomal dominant inheritance0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM12851971603799
HP:0000006HP:0000006Autosomal dominant inheritance0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13331971603799
HP:0000006HP:0000006Autosomal dominant inheritance0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM119114214612082
HP:0000006HP:0000006Autosomal dominant inheritance0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM121214214612082
HP:0000006HP:0000006Autosomal dominant inheritance0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM17637067600005
HP:0000006HP:0000006Autosomal dominant inheritance0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM18837067600005
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H10370614433Atrial septal defect 8614433C3280790OMIM1411987602937
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H10370614433Atrial septal defect 8614433C3280790OMIM1421987602937
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H10370614431Ventricular septal defect 2614431C3280783OMIM1411987602937
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H10370614431Ventricular septal defect 2614431C3280783OMIM1421987602937
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM16862019118425
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM17892019118425
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM13882025602727
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM15492025602727
HP:0000006HP:0000006Autosomal dominant inheritance0CLPX CL E G H10845618015PROTOPORPHYRIA, ERYTHROPOIETIC, 2618015CN248523OMIM1172088615611
HP:0000006HP:0000006Autosomal dominant inheritance0CLPX CL E G H10845618015PROTOPORPHYRIA, ERYTHROPOIETIC, 2618015CN248523OMIM1232088615611
HP:0000006HP:0000006Autosomal dominant inheritance0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0000006HP:0000006Autosomal dominant inheritance0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805613882Hypomagnesemia 6, renal613882C3151295OMIM1176103607803
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805613882Hypomagnesemia 6, renal613882C3151295OMIM1191103607803
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1176103607803
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1191103607803
HP:0000006HP:0000006Autosomal dominant inheritance0COCH CL E G H1690601369Deafness, autosomal dominant 9601369C1832425OMIM11842180603196
HP:0000006HP:0000006Autosomal dominant inheritance0COCH CL E G H1690601369Deafness, autosomal dominant 9601369C1832425OMIM11982180603196
HP:0000006HP:0000006Autosomal dominant inheritance0COL10A1 CL E G H1300156500Metaphyseal chondrodysplasia, Schmid type156500C0265289OMIM12132185120110
HP:0000006HP:0000006Autosomal dominant inheritance0COL10A1 CL E G H1300156500Metaphyseal chondrodysplasia, Schmid type156500C0265289OMIM12602185120110
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM110282186120280
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM113392186120280
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM110282186120280
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM113392186120280
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM17052187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM19742187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302614524Fibrochondrogenesis 2614524C3281128OMIM17052187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302614524Fibrochondrogenesis 2614524C3281128OMIM19742187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM17052187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM19742187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM13922194113811
HP:0000006HP:0000006Autosomal dominant inheritance0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM14062194113811
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM113972197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM116552197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277114000Infantile cortical hyperostosis114000C0020497OMIM113972197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277114000Infantile cortical hyperostosis114000C0020497OMIM116552197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM113972197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM116552197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM113972197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM116552197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM113972197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM116552197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM113972197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM116552197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM110422198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM112032198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM110422198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM112032198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM110422198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM112032198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280200610Achondrogenesis, type II200610C0220685OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280200610Achondrogenesis, type II200610C0220685OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280608805Avascular necrosis of the head of femur608805C0410480OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280608805Avascular necrosis of the head of femur608805C0410480OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280604864Osteoarthritis with mild chondrodysplasia604864C1858079OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280604864Osteoarthritis with mild chondrodysplasia604864C1858079OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280151210Platyspondylic lethal skeletal dysplasia Torrance type151210C1835437OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280151210Platyspondylic lethal skeletal dysplasia Torrance type151210C1835437OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM112132200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM115402200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL3A1 CL E G H1281130050Ehlers-Danlos syndrome, type 4130050C0268338OMIM119352201120180
HP:0000006HP:0000006Autosomal dominant inheritance0COL3A1 CL E G H1281130050Ehlers-Danlos syndrome, type 4130050C0268338OMIM120832201120180
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM18372202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM110102202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM18372202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM110102202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM18372202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM110102202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM17642203120090
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM18572203120090
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM112032204120070
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM113622204120070
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H1285141200Benign familial hematuria141200C0241908OMIM112032204120070
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H1285141200Benign familial hematuria141200C0241908OMIM113622204120070
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A4 CL E G H1286141200Benign familial hematuria141200C0241908OMIM113862206120131
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A4 CL E G H1286141200Benign familial hematuria141200C0241908OMIM115322206120131
HP:0000006HP:0000006Autosomal dominant inheritance0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM120772209120215
HP:0000006HP:0000006Autosomal dominant inheritance0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM122462209120215
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294132000Dominant dystrophic epidermolysis bullosa with absence of skin132000C0268371OMIM116582214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294132000Dominant dystrophic epidermolysis bullosa with absence of skin132000C0268371OMIM120282214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294604129Epidermolysis bullosa pruriginosa604129C1275114OMIM116582214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294604129Epidermolysis bullosa pruriginosa604129C1275114OMIM120282214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131750Generalized dominant dystrophic epidermolysis bullosa131750C0432322OMIM116582214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131750Generalized dominant dystrophic epidermolysis bullosa131750C0432322OMIM120282214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294607523Nail disorder, nonsyndromic congenital, 8607523C1843761OMIM116582214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294607523Nail disorder, nonsyndromic congenital, 8607523C1843761OMIM120282214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131850Pretibial epidermolysis bullosa131850C0432321OMIM116582214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131850Pretibial epidermolysis bullosa131850C0432321OMIM120282214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131705Transient bullous dermolysis of the newborn131705C1851573OMIM116582214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131705Transient bullous dermolysis of the newborn131705C1851573OMIM120282214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM1362216120252
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM1392216120252
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM1362216120252
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM1392216120252
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A1 CL E G H1297614135Multiple epiphyseal dysplasia 6614135C2675767OMIM15942217120210
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A1 CL E G H1297614135Multiple epiphyseal dysplasia 6614135C2675767OMIM17442217120210
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A2 CL E G H1298600204Multiple epiphyseal dysplasia 2600204C1838429OMIM13362218120260
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A2 CL E G H1298600204Multiple epiphyseal dysplasia 2600204C1838429OMIM14792218120260
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM14642219120270
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM17032219120270
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H1311132400Multiple epiphyseal dysplasia 1132400C1838280OMIM12872227600310
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H1311132400Multiple epiphyseal dysplasia 1132400C1838280OMIM13752227600310
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM