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 deficiency614036C3279661OMIM16557103950
HP:0000006HP:0000006Autosomal dominant inheritance0A4GALT CL E G H53947111400p phenotype111400C0599990OMIM1375018149607922
HP:0000006HP:0000006Autosomal dominant inheritance0AAGAB CL E G H79719148600Keratosis palmoplantaris papulosa148600C1835662OMIM1423625662614888
HP:0000006HP:0000006Autosomal dominant inheritance0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA1 CL E G H19604091Familial hypoalphalipoproteinemia604091C1704429OMIM124035229600046
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM11280151134601691
HP:0000006HP:0000006Autosomal dominant inheritance0ABCA5 CL E G H23461135400Gingival fibromatosis with hypertrichosis135400C1851120OMIM154935612503
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM124433445171060
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB4 CL E G H5244614972Cholestasis, intrahepatic, of pregnancy 3614972C3554241OMIM124433445171060
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058615402Dyschromatosis universalis hereditaria 3615402C3809394OMIM1605747605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM1605747605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM1605747605452
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833125853Diabetes mellitus type 2125853C0011860OMIM166160259600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM166160259600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM166160259600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC8 CL E G H6833610374Transient neonatal diabetes mellitus 2610374C1835887OMIM166160259600509
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060614050Atrial fibrillation, familial, 12614050C3279695OMIM14965860601439
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060608569Dilated cardiomyopathy 1O608569C1837839OMIM14965860601439
HP:0000006HP:0000006Autosomal dominant inheritance0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM164178319155760
HP:0000006HP:0000006Autosomal dominant inheritance0ACAN CL E G H176608361Spondyloepiphyseal dysplasia, kimberley type608361C1842149OMIM164178319155760
HP:0000006HP:0000006Autosomal dominant inheritance0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM1913525070609377
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217272129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1217272129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59611788Aortic aneurysm, familial thoracic 6611788C2673186OMIM183290130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59614042Moyamoya disease 5614042C3279690OMIM183290130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTA2 CL E G H59613834Multisystemic smooth muscle dysfunction syndrome613834C3151201OMIM183290130102620
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000006HP:0000006Autosomal dominant inheritance0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70612794Atrial septal defect 5612794C2748552OMIM166429143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70613424Dilated cardiomyopathy 1R613424C3150681OMIM166429143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTC1 CL E G H70612098Familial hypertrophic cardiomyopathy 11612098C2677506OMIM166429143102540
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG1 CL E G H71604717Deafness, autosomal dominant 20604717C1858172OMIM148261144102560
HP:0000006HP:0000006Autosomal dominant inheritance0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN1 CL E G H87615193Platelet-type bleeding disorder 15615193C3554663OMIM13071163102575
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN2 CL E G H88612158Dilated cardiomyopathy 1AA612158C2677338OMIM147714164102573
HP:0000006HP:0000006Autosomal dominant inheritance0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM13475166604638
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM120104171102576
HP:0000006HP:0000006Autosomal dominant inheritance0ACVR2B CL E G H93613751Heterotaxy, visceral, 4, autosomal613751C3151057OMIM14285174602730
HP:0000006HP:0000006Autosomal dominant inheritance0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0000006HP:0000006Autosomal dominant inheritance0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM1552161839607575
HP:0000006HP:0000006Autosomal dominant inheritance0ADAM10 CL E G H102615537Reticulate acropigmentation of Kitamura615537C0406811OMIM11332188602192
HP:0000006HP:0000006Autosomal dominant inheritance0ADAR CL E G H103127400Symmetrical dyschromatosis of extremities127400C0406775OMIM1229316225146920
HP:0000006HP:0000006Autosomal dominant inheritance0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM129132236600293
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRE2 CL E G H30817125630Vibratory urticaria125630C1852146OMIM11383337606100
HP:0000006HP:0000006Autosomal dominant inheritance0ADGRV1 CL E G H84059604352Febrile seizures, familial, 4604352C1858493OMIM1249147917416602851
HP:0000006HP:0000006Autosomal dominant inheritance0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0000006HP:0000006Autosomal dominant inheritance0ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM1768282104260
HP:0000006HP:0000006Autosomal dominant inheritance0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM136617869604417
HP:0000006HP:0000006Autosomal dominant inheritance0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140266315604581
HP:0000006HP:0000006Autosomal dominant inheritance0AGBL1 CL E G H123624615523Corneal dystrophy, Fuchs endothelial, 8615523C3809798OMIM124426504615496
HP:0000006HP:0000006Autosomal dominant inheritance0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1112273358605555
HP:0000006HP:0000006Autosomal dominant inheritance0AIP CL E G H9049102200Somatotroph adenoma102200C0346302OMIM1112273358605555
HP:0000006HP:0000006Autosomal dominant inheritance0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0000006HP:0000006Autosomal dominant inheritance0AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM139781379604001
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207114500Carcinoma of colon114500C0699790OMIM112269391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112269391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM112269391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM112269391164730
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208125853Diabetes mellitus type 2125853C0011860OMIM1746392164731
HP:0000006HP:0000006Autosomal dominant inheritance0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM1746392164731
HP:0000006HP:0000006Autosomal dominant inheritance0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM128175393611223
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1332529722138250
HP:0000006HP:0000006Autosomal dominant inheritance0ALDH2 CL E G H217610251Acute alcohol sensitivity610251C2674838OMIM1238404100650
HP:0000006HP:0000006Autosomal dominant inheritance0ALPL CL E G H249146300Adult hypophosphatasia146300C0268413OMIM1295328438171760
HP:0000006HP:0000006Autosomal dominant inheritance0ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM127221450605420
HP:0000006HP:0000006Autosomal dominant inheritance0ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM14076483105850
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPTL3 CL E G H27329605019Hypobetalipoproteinemia, familial, 2605019C1857970OMIM15336491604774
HP:0000006HP:0000006Autosomal dominant inheritance0ANGPTL4 CL E G H51129615881Plasma triglyceride level quantitative trait locus615881C4014553OMIM1241616039605910
HP:0000006HP:0000006Autosomal dominant inheritance0ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1111388492612641
HP:0000006HP:0000006Autosomal dominant inheritance0ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM1751206493106410
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H56172118600Chondrocalcinosis 2118600C0856830OMIM12233915492605145
HP:0000006HP:0000006Autosomal dominant inheritance0ANKH CL E G H56172123000Craniometaphyseal dysplasia, autosomal dominant123000C1852502OMIM12233915492605145
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0000006HP:0000006Autosomal dominant inheritance0ANKRD26 CL E G H22852188000Thrombocytopenia 2188000C1861185OMIM12219329186610855
HP:0000006HP:0000006Autosomal dominant inheritance0ANLN CL E G H54443616032Focal segmental glomerulosclerosis 8616032C4014993OMIM154814082616027
HP:0000006HP:0000006Autosomal dominant inheritance0ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM12212314004610110
HP:0000006HP:0000006Autosomal dominant inheritance0ANO5 CL E G H203859166260Gnathodiaphyseal dysplasia166260C1833736OMIM112262527337608662
HP:0000006HP:0000006Autosomal dominant inheritance0AP2S1 CL E G H1175600740Hypocalciuric hypercalcemia, familial, type III600740C1833372OMIM1723565602242
HP:0000006HP:0000006Autosomal dominant inheritance0AP4E1 CL E G H23431184450Stuttering, familial persistent 1184450C3489627OMIM118178573607244
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324114500Carcinoma of colon114500C0699790OMIM119517734583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324135290Desmoid disease, hereditary135290C1851124OMIM119517734583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324175100Familial adenomatous polyposis 1175100C2713442OMIM119517734583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APC CL E G H324114550Hepatocellular carcinoma114550C2239176OMIM119517734583611731
HP:0000006HP:0000006Autosomal dominant inheritance0APCDD1 CL E G H147495605389Hypotrichosis simplex605389C1854310OMIM119315718607479
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335604091Familial hypoalphalipoproteinemia604091C1704429OMIM17776600107680
HP:0000006HP:0000006Autosomal dominant inheritance0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM17776600107680
HP:0000006HP:0000006Autosomal dominant inheritance0APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM1743517288606368
HP:0000006HP:0000006Autosomal dominant inheritance0APOB CL E G H338144010Hypercholesterolemia, autosomal dominant, type B144010C1704417OMIM13332169603107730
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348104310Alzheimer disease 2104310C1863051OMIM16462613107741
HP:0000006HP:0000006Autosomal dominant inheritance0APOE CL E G H348606889Alzheimer disease, type 4606889C1847200OMIM16462613107741
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351104300Alzheimer's disease104300C0002395OMIM1107232620104760
HP:0000006HP:0000006Autosomal dominant inheritance0APP CL E G H351605714Cerebral amyloid angiopathy, APP-related605714C2751536OMIM1107232620104760
HP:0000006HP:0000006Autosomal dominant inheritance0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166176634107777
HP:0000006HP:0000006Autosomal dominant inheritance0AQP5 CL E G H362600231Diffuse palmoplantar keratoderma, Bothnian type600231C1838359OMIM1931638600442
HP:0000006HP:0000006Autosomal dominant inheritance0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGAP26 CL E G H23092607785Juvenile myelomonocytic leukemia607785C0349639OMIM14017073605370
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0000006HP:0000006Autosomal dominant inheritance0ARHGEF10 CL E G H9639608236Slowed nerve conduction velocity, autosomal dominant608236C1842357OMIM11422214103608136
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000006HP:0000006Autosomal dominant inheritance0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000006HP:0000006Autosomal dominant inheritance0ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM1557725781615549
HP:0000006HP:0000006Autosomal dominant inheritance0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM171306735613468
HP:0000006HP:0000006Autosomal dominant inheritance0ASB10 CL E G H136371603383Glaucoma 1, open angle, F603383C1863926OMIM12612717185615054
HP:0000006HP:0000006Autosomal dominant inheritance0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0000006HP:0000006Autosomal dominant inheritance0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM1198319088607999
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000006HP:0000006Autosomal dominant inheritance0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000006HP:0000006Autosomal dominant inheritance0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM18522011231606439
HP:0000006HP:0000006Autosomal dominant inheritance0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0000006HP:0000006Autosomal dominant inheritance0ATL3 CL E G H25923615632Hereditary sensory neuropathy type IF615632C3810194OMIM1414124526609369
HP:0000006HP:0000006Autosomal dominant inheritance0ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM15743033607462
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM199537800182340
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM199537800182340
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1122407801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1122407801182350
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488101900Acrokeratosis verruciformis of Hopf101900C0265971OMIM1286160812108740
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2A2 CL E G H488124200Keratosis follicularis124200C0022595OMIM1286160812108740
HP:0000006HP:0000006Autosomal dominant inheritance0ATP2C1 CL E G H27032169600Familial benign pemphigus169600C0085106OMIM118611013211604384
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1493854606939
HP:0000006HP:0000006Autosomal dominant inheritance0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1493854606939
HP:0000006HP:0000006Autosomal dominant inheritance0ATP8B1 CL E G H5205147480Cholestasis of pregnancy147480C0268318OMIM11403613706602397
HP:0000006HP:0000006Autosomal dominant inheritance0ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM134404882601215
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176910548601556
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM147710549611150
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM163110560607640
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM12232925613289
HP:0000006HP:0000006Autosomal dominant inheritance0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM156910561603680
HP:0000006HP:0000006Autosomal dominant inheritance0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0000006HP:0000006Autosomal dominant inheritance0AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM18369894192340
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN1 CL E G H8312114550Hepatocellular carcinoma114550C2239176OMIM11881903603816
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313114500Carcinoma of colon114500C0699790OMIM1221478904604025
HP:0000006HP:0000006Autosomal dominant inheritance0AXIN2 CL E G H8313608615Oligodontia-colorectal cancer syndrome608615C1837750OMIM1221478904604025
HP:0000006HP:0000006Autosomal dominant inheritance0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1942905109135
HP:0000006HP:0000006Autosomal dominant inheritance0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1424914109700
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531613881Dilated cardiomyopathy 1HH613881C3151293OMIM168449939603883
HP:0000006HP:0000006Autosomal dominant inheritance0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM168449939603883
HP:0000006HP:0000006Autosomal dominant inheritance0BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11191261950603089
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM1328713221606557
HP:0000006HP:0000006Autosomal dominant inheritance0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0000006HP:0000006Autosomal dominant inheritance0BCO1 CL E G H53630115300Hypercarotenemia and vitamin a deficiency, autosomal dominant115300C2676023OMIM157013815605748
HP:0000006HP:0000006Autosomal dominant inheritance0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM123324160612051
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131935412703607854
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP1 CL E G H631611391Cataract 33, multiple types611391C3808107OMIM17511040603307
HP:0000006HP:0000006Autosomal dominant inheritance0BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM17641041603212
HP:0000006HP:0000006Autosomal dominant inheritance0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM13532317208609797
HP:0000006HP:0000006Autosomal dominant inheritance0BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM1212301057191305
HP:0000006HP:0000006Autosomal dominant inheritance0BLVRA CL E G H644614156Hyperbiliverdinemia614156C3279964OMIM13261062109750
HP:0000006HP:0000006Autosomal dominant inheritance0BMP15 CL E G H9210300510Ovarian dysgenesis 2300510C1845294OMIM1281841068300247
HP:0000006HP:0000006Autosomal dominant inheritance0BMP2 CL E G H650112600Type A2 brachydactyly112600C1832702OMIM137691069112261
HP:0000006HP:0000006Autosomal dominant inheritance0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM148891071112262
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H657610069Hereditary mixed polyposis syndrome 2610069C1864730OMIM114112071076601299
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H658616849Brachydactyly, type a1, d616849C4225183OMIM1241951077603248
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR1B CL E G H658112600Type A2 brachydactyly112600C1832702OMIM1241951077603248
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H659178600Primary pulmonary hypertension178600C0152171OMIM15767681078600799
HP:0000006HP:0000006Autosomal dominant inheritance0BMPR2 CL E G H659265450Pulmonary veno-occlusive disease265450C0034091OMIM15767681078600799
HP:0000006HP:0000006Autosomal dominant inheritance0BMS1 CL E G H9790107600Aplasia cutis congenita107600C0282160OMIM125523505611448
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673211980Lung cancer211980C0684249OMIM1684901097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM12824114981100113705
HP:0000006HP:0000006Autosomal dominant inheritance0BRCA2 CL E G H675194070Wilms tumor 1194070CN033288OMIM13025127061101600185
HP:0000006HP:0000006Autosomal dominant inheritance0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM15026315832606158
HP:0000006HP:0000006Autosomal dominant inheritance0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM15026315832606158
HP:0000006HP:0000006Autosomal dominant inheritance0BUB1B CL E G H701114500Carcinoma of colon114500C0699790OMIM1293231149602860
HP:0000006HP:0000006Autosomal dominant inheritance0C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM1825914344608752
HP:0000006HP:0000006Autosomal dominant inheritance0C1R CL E G H715130080Ehlers-Danlos syndrome, type 8130080C0268347OMIM118721246613785
HP:0000006HP:0000006Autosomal dominant inheritance0C1S CL E G H716617174Ehlers-Danlos syndrome, periodontal type, 2617174C4310681OMIM110841247120580
HP:0000006HP:0000006Autosomal dominant inheritance0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM12415828337614260
HP:0000006HP:0000006Autosomal dominant inheritance0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM14301371603263
HP:0000006HP:0000006Autosomal dominant inheritance0CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM110851375114760
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM125113931388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM125113931388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM125113931388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM125113931388601011
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM131701389601012
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H775611875Brugada syndrome 3611875C2678478OMIM17412431390114205
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM1112011391114206
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM1121671394604065
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1H CL E G H8912617027Hyperaldosteronism, familial, type IV617027C4310756OMIM16411241395607904
HP:0000006HP:0000006Autosomal dominant inheritance0CACNA1S CL E G H779170400Hypokalemic periodic paralysis 1170400C3714580OMIM1568411397114208
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB2 CL E G H783611876Brugada syndrome 4611876C2678477OMIM1243471402600003
HP:0000006HP:0000006Autosomal dominant inheritance0CACNB4 CL E G H785613855Episodic ataxia, type 5613855C1866039OMIM172621404601949
HP:0000006HP:0000006Autosomal dominant inheritance0CACNG2 CL E G H10369614256Mental retardation, autosomal dominant 10614256C3280284OMIM12431406602911
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H801616247Long QT syndrome 14616247C4015671OMIM112681442114180
HP:0000006HP:0000006Autosomal dominant inheritance0CALM1 CL E G H801614916Ventricular tachycardia, catecholaminergic polymorphic, 4614916C3554047OMIM112681442114180
HP:0000006HP:0000006Autosomal dominant inheritance0CALM2 CL E G H805616249Long QT syndrome 15616249C4015695OMIM111731445114182
HP:0000006HP:0000006Autosomal dominant inheritance0CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM15281455109091
HP:0000006HP:0000006Autosomal dominant inheritance0CALR CL E G H811254450Myelofibrosis254450C0001815OMIM15281455109091
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2A CL E G H815617798MENTAL RETARDATION, AUTOSOMAL DOMINANT 53617798C4540481OMIM116351460114078
HP:0000006HP:0000006Autosomal dominant inheritance0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0000006HP:0000006Autosomal dominant inheritance0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000006HP:0000006Autosomal dominant inheritance0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM112891482602537
HP:0000006HP:0000006Autosomal dominant inheritance0CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM11430916393607210
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H79092173200Pityriasis rubra pilaris173200C0032027OMIM14231816446607211
HP:0000006HP:0000006Autosomal dominant inheritance0CARD14 CL E G H79092602723Psoriasis susceptibility 2602723C1864497OMIM14231816446607211
HP:0000006HP:0000006Autosomal dominant inheritance0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0000006HP:0000006Autosomal dominant inheritance0CASP8 CL E G H841114550Hepatocellular carcinoma114550C2239176OMIM1121391509601763
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM16411512114250
HP:0000006HP:0000006Autosomal dominant inheritance0CASQ2 CL E G H845604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1353141513114251
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM14109551514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846145980Hypocalciuric hypercalcemia, familial, type 1145980C0342637OMIM14109551514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM113621527601047
HP:0000006HP:0000006Autosomal dominant inheritance0CAV1 CL E G H857615343Primary pulmonary hypertension 3615343C3809192OMIM113621527601047
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM1502851529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM1502851529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859192600Familial hypertrophic cardiomyopathy 1192600C3495498OMIM1502851529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859611818Long QT syndrome 9611818C2678485OMIM1502851529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM1502851529601253
HP:0000006HP:0000006Autosomal dominant inheritance0CBFB CL E G H865601626Acute myeloid leukemia601626C0023467OMIM12371539121360
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H867607785Juvenile myelomonocytic leukemia607785C0349639OMIM1436101541165360
HP:0000006HP:0000006Autosomal dominant inheritance0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000006HP:0000006Autosomal dominant inheritance0CBX2 CL E G H8473361308046,XY sex reversal, type 5613080C2751317OMIM12371552602770
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM116626821616031
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC50 CL E G H152137607453Deafness, autosomal dominant 44607453C1843895OMIM1410218111611051
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM1524314153614666
HP:0000006HP:0000006Autosomal dominant inheritance0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM11119219967611204
HP:0000006HP:0000006Autosomal dominant inheritance0CCM2 CL E G H83605603284Cerebral cavernous malformations 2603284C1864041OMIM18815421708607929
HP:0000006HP:0000006Autosomal dominant inheritance0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM111851583123833
HP:0000006HP:0000006Autosomal dominant inheritance0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11311632603356
HP:0000006HP:0000006Autosomal dominant inheritance0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0000006HP:0000006Autosomal dominant inheritance0CD36 CL E G H948608404Platelet glycoprotein IV deficiency608404C1842090OMIM1431551663173510
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577145000Hyperparathyroidism 1145000C1840402OMIM110452616783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577145001Hyperparathyroidism 2145001C1704981OMIM110452616783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDC73 CL E G H79577608266Parathyroid carcinoma608266C0687150OMIM110452616783607393
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM126424541748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999137215Hereditary diffuse gastric cancer137215C1708349OMIM126424541748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM126424541748192090
HP:0000006HP:0000006Autosomal dominant inheritance0CDH15 CL E G H1013612580Mental retardation, autosomal dominant 3612580C2675488OMIM191611754114019
HP:0000006HP:0000006Autosomal dominant inheritance0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1B CL E G H1027610755Multiple endocrine neoplasia, type 4610755C1970712OMIM1254161785600778
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM1814711786600856
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1814711786600856
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM12438331787600160
HP:0000006HP:0000006Autosomal dominant inheritance0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM12438331787600160
HP:0000006HP:0000006Autosomal dominant inheritance0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM11339117104608707
HP:0000006HP:0000006Autosomal dominant inheritance0CDSN CL E G H1041146520Hypotrichosis 2146520C1840299OMIM116371802602593
HP:0000006HP:0000006Autosomal dominant inheritance0CEACAM16 CL E G H388551614614Deafness, autosomal dominant 4b614614C3281297OMIM147331948614591
HP:0000006HP:0000006Autosomal dominant inheritance0CEBPA CL E G H1050601626Acute myeloid leukemia601626C0023467OMIM1143491833116897
HP:0000006HP:0000006Autosomal dominant inheritance0CEL CL E G H1056609812Maturity-onset diabetes of the young, type 8609812C1853297OMIM114811848114840
HP:0000006HP:0000006Autosomal dominant inheritance0CFC1 CL E G H55997605376Heterotaxy, visceral, 2, autosomal605376C1415817OMIM1233218292605194
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H3075126700Basal laminar drusen126700C0730295OMIM13462014883134370
HP:0000006HP:0000006Autosomal dominant inheritance0CFH CL E G H3075609814Factor H deficiency609814C0398777OMIM13462014883134370
HP:0000006HP:0000006Autosomal dominant inheritance0CFHR5 CL E G H81494614809CFHR5 deficiency614809C3553720OMIM13812624668608593
HP:0000006HP:0000006Autosomal dominant inheritance0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM12716315559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM12716315559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12716315559615903
HP:0000006HP:0000006Autosomal dominant inheritance0CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM1133521645616244
HP:0000006HP:0000006Autosomal dominant inheritance0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM1607931917602119
HP:0000006HP:0000006Autosomal dominant inheritance0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0000006HP:0000006Autosomal dominant inheritance0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1884126620626608892
HP:0000006HP:0000006Autosomal dominant inheritance0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM1213226016627604373
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM1229624537609512
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM1229624537609512
HP:0000006HP:0000006Autosomal dominant inheritance0CHMP4B CL E G H128866605387Cataract, posterior polar, 3605387C1854311OMIM132116171610897
HP:0000006HP:0000006Autosomal dominant inheritance0CHN1 CL E G H1123604356Duane syndrome type 2604356C0751083OMIM1111111943118423
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1362361955100690
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM1134421956118502
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA4 CL E G H1137600513Epilepsy, nocturnal frontal lobe, type 1600513C1838049OMIM1295251958118504
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM1573031960118511
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112051961100710
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNB2 CL E G H1141605375Epilepsy, nocturnal frontal lobe, type 3605375C1854335OMIM1142971962118507
HP:0000006HP:0000006Autosomal dominant inheritance0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM1262531965100720
HP:0000006HP:0000006Autosomal dominant inheritance0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11383871966100725
HP:0000006HP:0000006Autosomal dominant inheritance0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0000006HP:0000006Autosomal dominant inheritance0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM11013214214612082
HP:0000006HP:0000006Autosomal dominant inheritance0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM1204357067600005
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H10370614433Atrial septal defect 8614433C3280790OMIM119321987602937
HP:0000006HP:0000006Autosomal dominant inheritance0CITED2 CL E G H10370614431Ventricular septal defect 2614431C3280783OMIM119321987602937
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM13175342019118425
HP:0000006HP:0000006Autosomal dominant inheritance0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM11002682025602727
HP:0000006HP:0000006Autosomal dominant inheritance0CLPX CL E G H10845618015PROTOPORPHYRIA, ERYTHROPOIETIC, 2618015CN248523OMIM13152088615611
HP:0000006HP:0000006Autosomal dominant inheritance0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM111213164116955
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805613882Hypomagnesemia 6, renal613882C3151295OMIM17131103607803
HP:0000006HP:0000006Autosomal dominant inheritance0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM17131103607803
HP:0000006HP:0000006Autosomal dominant inheritance0COCH CL E G H1690601369Deafness, autosomal dominant 9601369C1832425OMIM1291202180603196
HP:0000006HP:0000006Autosomal dominant inheritance0COL10A1 CL E G H1300156500Metaphyseal chondrodysplasia, Schmid type156500C0265289OMIM1541722185120110
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302601868Deafness, autosomal dominant 13601868C1866095OMIM1594712187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302614524Fibrochondrogenesis 2614524C3281128OMIM1594712187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL11A2 CL E G H1302184840Stickler syndrome, type 3184840C1861481OMIM1594712187120290
HP:0000006HP:0000006Autosomal dominant inheritance0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM11142592194113811
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM196711052197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277114000Infantile cortical hyperostosis114000C0020497OMIM196711052197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM196711052197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277259420Osteogenesis imperfecta type III259420C0268362OMIM196711052197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM196711052197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM196711052197120150
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278259420Osteogenesis imperfecta type III259420C0268362OMIM15237942198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM15237942198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM15237942198120160
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280200610Achondrogenesis, type II200610C0220685OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280608805Avascular necrosis of the head of femur608805C0410480OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280609162Czech dysplasia metatarsal type609162C1836683OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280604864Osteoarthritis with mild chondrodysplasia604864C1858079OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280151210Platyspondylic lethal skeletal dysplasia Torrance type151210C1835437OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280616583Spondyloepiphyseal dysplasia, stanescu type616583C4225273OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM15707312200120140
HP:0000006HP:0000006Autosomal dominant inheritance0COL3A1 CL E G H1281130050Ehlers-Danlos syndrome, type 4130050C0268338OMIM164516472201120180
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM11144982202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM11144982202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11144982202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM11144982202120130
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM1144062203120090
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3 CL E G H1285141200Benign familial hematuria141200C0241908OMIM12726132204120070
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM182205604677
HP:0000006HP:0000006Autosomal dominant inheritance0COL4A4 CL E G H1286141200Benign familial hematuria141200C0241908OMIM12336882206120131
HP:0000006HP:0000006Autosomal dominant inheritance0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113710072211120220
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113710072211120220
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119111482212120240
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119111482212120240
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114316342213120250
HP:0000006HP:0000006Autosomal dominant inheritance0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114316342213120250
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294132000Dominant dystrophic epidermolysis bullosa with absence of skin132000C0268371OMIM18286912214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294604129Epidermolysis bullosa pruriginosa604129C1275114OMIM18286912214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131750Generalized dominant dystrophic epidermolysis bullosa131750C0432322OMIM18286912214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294607523Nail disorder, nonsyndromic congenital, 8607523C1843761OMIM18286912214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131850Pretibial epidermolysis bullosa131850C0432321OMIM18286912214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL7A1 CL E G H1294131705Transient bullous dermolysis of the newborn131705C1851573OMIM18286912214120120
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM18182216120252
HP:0000006HP:0000006Autosomal dominant inheritance0COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A1 CL E G H1297614135Multiple epiphyseal dysplasia 6614135C2675767OMIM162812217120210
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A2 CL E G H1298600204Multiple epiphyseal dysplasia 2600204C1838429OMIM1132152218120260
HP:0000006HP:0000006Autosomal dominant inheritance0COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM1171842219120270
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H1311132400Multiple epiphyseal dysplasia 1132400C1838280OMIM11881862227600310
HP:0000006HP:0000006Autosomal dominant inheritance0COMP CL E G H1311177170Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome177170C0410538OMIM11881862227600310
HP:0000006HP:0000006Autosomal dominant inheritance0CORIN CL E G H10699614595Preeclampsia/eclampsia 5614595C3281288OMIM1104919012605236
HP:0000006HP:0000006Autosomal dominant inheritance0CPA6 CL E G H57094614417Epilepsy, familial temporal lobe, 5614417C3280730OMIM11716717245609562
HP:0000006HP:0000006Autosomal dominant inheritance0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000006HP:0000006Autosomal dominant inheritance0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0000006HP:0000006Autosomal dominant inheritance0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM128118540608846
HP:0000006HP:0000006Autosomal dominant inheritance0CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM11133662330600650
HP:0000006HP:0000006Autosomal dominant inheritance0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0000006HP:0000006Autosomal dominant inheritance0CRB1 CL E G H23418172870Pigmented paravenous chorioretinal atrophy172870C1868310OMIM13475442343604210
HP:0000006HP:0000006Autosomal dominant inheritance0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000006HP:0000006Autosomal dominant inheritance0CRELD1 CL E G H78987606217Atrioventricular septal defect 2606217C1853508OMIM1169414630607170
HP:0000006HP:0000006Autosomal dominant inheritance0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM11072982383602225
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM1271292388123580
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM1301342389123590
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAB CL E G H1410613763Cataract 16, multiple types613763C3151065OMIM1301342389123590
HP:0000006HP:0000006Autosomal dominant inheritance0CRYAB CL E G H1410615184Dilated cardiomyopathy 1II615184C3554649OMIM1301342389123590
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBA1 CL E G H1411600881Cataract, congenital zonular, with sutural opacities600881C1833229OMIM113302394123610
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBA2 CL E G H1412115900Cataract, floriform115900C1861830OMIM12232395600836
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBA4 CL E G H1413610425Cataract 23, multiple types610425C3808012OMIM110842396123631
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM120652397600929
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBB2 CL E G H1415601547Cataract 3, multiple types601547C1832175OMIM127532398123620
HP:0000006HP:0000006Autosomal dominant inheritance0CRYBB3 CL E G H1417609741Cataract, congenital nuclear, autosomal recessive 2609741C1857853OMIM17752400123630
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGB CL E G H1419615188Cataract 39, multiple types615188C3808800OMIM13342409123670
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM128502410123680
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGD CL E G H1421115700Aculeiform cataract115700C1861832OMIM127732411123690
HP:0000006HP:0000006Autosomal dominant inheritance0CRYGS CL E G H1427116100Membranous cataract116100C0524524OMIM19492417123730
HP:0000006HP:0000006Autosomal dominant inheritance0CRYM CL E G H1428616357Deafness, autosomal dominant 40616357C4084708OMIM14542418123740
HP:0000006HP:0000006Autosomal dominant inheritance0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM11002582433164770
HP:0000006HP:0000006Autosomal dominant inheritance0CSNK1D CL E G H1453615224Advanced sleep phase syndrome, familial, 2615224C3808874OMIM13302452600864
HP:0000006HP:0000006Autosomal dominant inheritance0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0000006HP:0000006Autosomal dominant inheritance0CSRP3 CL E G H8048607482Dilated cardiomyopathy 1M607482C1843808OMIM1332362472600824
HP:0000006HP:0000006Autosomal dominant inheritance0CSRP3 CL E G H8048612124Familial hypertrophic cardiomyopathy 12612124C2677491OMIM1332362472600824
HP:0000006HP:0000006Autosomal dominant inheritance0CST3 CL E G H1471105150Hereditary cerebral amyloid angiopathy, Icelandic type105150C1527338OMIM15322475604312
HP:0000006HP:0000006Autosomal dominant inheritance0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000006HP:0000006Autosomal dominant inheritance0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0000006HP:0000006Autosomal dominant inheritance0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNA1 CL E G H1495608970Macular dystrophy, patterned, 2608970C1837029OMIM1148232509116805
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNA3 CL E G H29119615616Arrhythmogenic right ventricular dysplasia, familial, 13615616C3810138OMIM1493122511607667
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H1499114500Carcinoma of colon114500C0699790OMIM1541802514116806
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H1499114550Hepatocellular carcinoma114550C2239176OMIM1541802514116806
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H1499155255Medulloblastoma155255C0025149OMIM1541802514116806
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM1541802514116806
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H1499167000Neoplasm of ovary167000C0919267OMIM1541802514116806
HP:0000006HP:0000006Autosomal dominant inheritance0CTNNB1 CL E G H1499132600Pilomatrixoma132600C0206711OMIM1541802514116806
HP:0000006HP:0000006Autosomal dominant inheritance0CTSB CL E G H1508148370Keratolytic winter erythema148370C0406756OMIM141212527116810
HP:0000006HP:0000006Autosomal dominant inheritance0CUL3 CL E G H8452614496Pseudohypoaldosteronism type 2E614496C3469606OMIM1311842553603136
HP:0000006HP:0000006Autosomal dominant inheritance0CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM115532561162643
HP:0000006HP:0000006Autosomal dominant inheritance0CYCS CL E G H54205612004Thrombocytopenia 4612004C2677608OMIM134919986123970
HP:0000006HP:0000006Autosomal dominant inheritance0CYLD CL E G H1540132700Cylindromatosis, familial132700C1851526OMIM11071992584605018
HP:0000006HP:0000006Autosomal dominant inheritance0CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM11071992584605018
HP:0000006HP:0000006Autosomal dominant inheritance0CYLD CL E G H1540605041Spiegler-Brooke syndrome605041C1857941OMIM11071992584605018
HP:0000006HP:0000006Autosomal dominant inheritance0CYP11B1 CL E G H1584103900Hyperaldosteronism, familial, type I103900C1260386OMIM11613222591610613
HP:0000006HP:0000006Autosomal dominant inheritance0CYP19A1 CL E G H1588139300Familial gynecomastia, due to increased aromatase activity139300C1970109OMIM1731512594107910
HP:0000006HP:0000006Autosomal dominant inheritance0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0000006HP:0000006Autosomal dominant inheritance0CYP2A6 CL E G H1548122700Warfarin response122700CN078029OMIM138302610122720
HP:0000006HP:0000006Autosomal dominant inheritance0CYP2C9 CL E G H1559122700Warfarin response122700CN078029OMIM166392623601130
HP:0000006HP:0000006Autosomal dominant inheritance0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM12482661603448
HP:0000006HP:0000006Autosomal dominant inheritance0DACT1 CL E G H51339617466Townes-Brocks syndrome 2617466C4479534OMIM185017748607861
HP:0000006HP:0000006Autosomal dominant inheritance0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM112524891615820
HP:0000006HP:0000006Autosomal dominant inheritance0DCC CL E G H1630114500Carcinoma of colon114500C0699790OMIM1411232701120470
HP:0000006HP:0000006Autosomal dominant inheritance0DCC CL E G H1630133239Malignant tumor of esophagus133239C0546837OMIM1411232701120470
HP:0000006HP:0000006Autosomal dominant inheritance0DCC CL E G H1630157600Mirror movements 1157600C1834870OMIM1411232701120470
HP:0000006HP:0000006Autosomal dominant inheritance0DCHS1 CL E G H8642607829Mitral valve prolapse 2607829C1843003OMIM12418013681603057
HP:0000006HP:0000006Autosomal dominant inheritance0DCN CL E G H1634610048Congenital Stromal Corneal Dystrophy610048C1864738OMIM16632705125255
HP:0000006HP:0000006Autosomal dominant inheritance0DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM1574212711601143
HP:0000006HP:0000006Autosomal dominant inheritance0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM1574212711601143
HP:0000006HP:0000006Autosomal dominant inheritance0DDX58 CL E G H23586616298Singleton-Merten syndrome 2616298C4225380OMIM189019102609631
HP:0000006HP:0000006Autosomal dominant inheritance0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM11712914677602635
HP:0000006HP:0000006Autosomal dominant inheritance0DEPDC5 CL E G H9681604364Epilepsy, familial focal, with variable foci 1604364C1858477OMIM18267118423614191
HP:0000006HP:0000006Autosomal dominant inheritance0DES CL E G H1674604765Dilated cardiomyopathy 1I604765C1858154OMIM11264942770125660
HP:0000006HP:0000006Autosomal dominant inheritance0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM11264942770125660
HP:0000006HP:0000006Autosomal dominant inheritance0DES CL E G H1674181400Scapuloperoneal syndrome, neurogenic, Kaeser type181400C1867005OMIM11264942770125660
HP:0000006HP:0000006Autosomal dominant inheritance0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM133902845600594
HP:0000006HP:0000006Autosomal dominant inheritance0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM133172846601279
HP:0000006HP:0000006Autosomal dominant inheritance0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM123812847609030
HP:0000006HP:0000006Autosomal dominant inheritance0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM1812220603608172
HP:0000006HP:0000006Autosomal dominant inheritance0DHTKD1 CL E G H55526615025Charcot-Marie-Tooth disease, axonal, type 2Q615025C3554366OMIM11813823537614984
HP:0000006HP:0000006Autosomal dominant inheritance0DIABLO CL E G H56616614152Deafness, autosomal dominant 64614152C3279948OMIM124821528605219
HP:0000006HP:0000006Autosomal dominant inheritance0DIAPH1 CL E G H1729124900Deafness, autosomal dominant 1124900C1852282OMIM1153592876602121
HP:0000006HP:0000006Autosomal dominant inheritance0DIAPH3 CL E G H81624609129Auditory neuropathy, autosomal dominant, 1609129C1836743OMIM1912615480614567
HP:0000006HP:0000006Autosomal dominant inheritance0DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1145279917098606241
HP:0000006HP:0000006Autosomal dominant inheritance0DICER1 CL E G H23405138800Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors138800C0018022OMIM1145279917098606241
HP:0000006HP:0000006Autosomal dominant inheritance0DIP2B CL E G H57609136630Mental retardation, fra12a type136630C1969893OMIM133529284611379
HP:0000006HP:0000006Autosomal dominant inheritance0DISC2 CL E G H27184181500Schizophrenia181500C0036341OMIM1342889606271
HP:0000006HP:0000006Autosomal dominant inheritance0DLC1 CL E G H10395114500Carcinoma of colon114500C0699790OMIM1251292897604258
HP:0000006HP:0000006Autosomal dominant inheritance0DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM119492910605185
HP:0000006HP:0000006Autosomal dominant inheritance0DLX3 CL E G H1747104510Amelogenesis imperfecta, type IV104510C1863012OMIM112902916600525
HP:0000006HP:0000006Autosomal dominant inheritance0DLX3 CL E G H1747190320Tricho-dento-osseous syndrome190320C0265333OMIM112902916600525
HP:0000006HP:0000006Autosomal dominant inheritance0DLX4 CL E G H1748616788Orofacial cleft 15616788C4225209OMIM11222917601911
HP:0000006HP:0000006Autosomal dominant inheritance0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182332933605377
HP:0000006HP:0000006Autosomal dominant inheritance0DMXL2 CL E G H23312617605DEAFNESS, AUTOSOMAL DOMINANT 71617605C4539881OMIM191032938612186
HP:0000006HP:0000006Autosomal dominant inheritance0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM181462939601810
HP:0000006HP:0000006Autosomal dominant inheritance0DNAJB11 CL E G H51726618061POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE618061CN252647OMIM114814889611341
HP:0000006HP:0000006Autosomal dominant inheritance0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM11829614888611332
HP:0000006HP:0000006Autosomal dominant inheritance0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM1228716235611203
HP:0000006HP:0000006Autosomal dominant inheritance0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM1313242972602377
HP:0000006HP:0000006Autosomal dominant inheritance0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1201972973603850
HP:0000006HP:0000006Autosomal dominant inheritance0DNM1L CL E G H10059610708Optic atrophy 5610708C1853139OMIM1201972973603850
HP:0000006HP:0000006Autosomal dominant inheritance0DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM1525062974602378
HP:0000006HP:0000006Autosomal dominant inheritance0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM1525062974602378
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM1235102976126375
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM1235102976126375
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT3A CL E G H1788601626Acute myeloid leukemia601626C0023467OMIM1511682978602769
HP:0000006HP:0000006Autosomal dominant inheritance0DNMT3A CL E G H1788615879Tatton-Brown-rahman syndrome615879C4014545OMIM1511682978602769
HP:0000006HP:0000006Autosomal dominant inheritance0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM1421572995191350
HP:0000006HP:0000006Autosomal dominant inheritance0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM111813010126141
HP:0000006HP:0000006Autosomal dominant inheritance0DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM1888223036125645
HP:0000006HP:0000006Autosomal dominant inheritance0DSG1 CL E G H1828148700Keratosis palmoplantaris striata 1148700C2931122OMIM135893048125670
HP:0000006HP:0000006Autosomal dominant inheritance0DSG2 CL E G H1829610193Arrhythmogenic right ventricular cardiomyopathy, type 10610193C1857777OMIM11329253049125671
HP:0000006HP:0000006Autosomal dominant inheritance0DSP CL E G H1832607450Arrhythmogenic right ventricular cardiomyopathy, type 8607450C1843896OMIM130921793052125647
HP:0000006HP:0000006Autosomal dominant inheritance0DSP CL E G H1832615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis615821C4014393OMIM130921793052125647
HP:0000006HP:0000006Autosomal dominant inheritance0DSP CL E G H1832605676Dilated cardiomyopathy with woolly hair and keratoderma605676C1854063OMIM130921793052125647
HP:0000006HP:0000006Autosomal dominant inheritance0DSP CL E G H1832612908Keratosis palmoplantaris striata II612908C1852127OMIM130921793052125647
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H1834605594Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1605594C1854146OMIM154913054125485
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H1834125420Denticles125420C1527284OMIM154913054125485
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H1834125490Dentinogenesis imperfecta - Shield's type II125490C0205730OMIM154913054125485
HP:0000006HP:0000006Autosomal dominant inheritance0DSPP CL E G H1834125500Dentinogenesis imperfecta - Shield's type III125500C0399378OMIM154913054125485
HP:0000006HP:0000006Autosomal dominant inheritance0DSTYK CL E G H25778610805Congenital anomalies of kidney and urinary tract 1, susceptibility to610805C1835826OMIM1115029043612666
HP:0000006HP:0000006Autosomal dominant inheritance0DTNA CL E G H1837604169Left ventricular noncompaction 1604169C1858725OMIM182883057601239
HP:0000006HP:0000006Autosomal dominant inheritance0DUSP6 CL E G H1848615269Hypogonadotropic hypogonadism 19 with or without anosmia615269C3808981OMIM15243072602748
HP:0000006HP:0000006Autosomal dominant inheritance0DUSP6 CL E G H1848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15243072602748
HP:0000006HP:0000006Autosomal dominant inheritance0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000006HP:0000006Autosomal dominant inheritance0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM1192443084601365
HP:0000006HP:0000006Autosomal dominant inheritance0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000006HP:0000006Autosomal dominant inheritance0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM115773087601368
HP:0000006HP:0000006Autosomal dominant inheritance0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM17714532961600112
HP:0000006HP:0000006Autosomal dominant inheritance0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM17714532961600112
HP:0000006HP:0000006Autosomal dominant inheritance0DYNC1H1 CL E G H1778158600Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant158600C1834690OMIM17714532961600112
HP:0000006HP:0000006Autosomal dominant inheritance0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM1774373091600855
HP:0000006HP:0000006Autosomal dominant inheritance0DYRK1B CL E G H9149615812Abdominal obesity-metabolic syndrome 3615812C4014361OMIM12273092604556
HP:0000006HP:0000006Autosomal dominant inheritance0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000006HP:0000006Autosomal dominant inheritance0ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM17473146600423
HP:0000006HP:0000006Autosomal dominant inheritance0EDAR CL E G H10913129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM1622332895604095
HP:0000006HP:0000006Autosomal dominant inheritance0EDARADD CL E G H128178129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM11015314341606603
HP:0000006HP:0000006Autosomal dominant inheritance0EDARADD CL E G H128178614940Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant614940C3541517OMIM11015314341606603
HP:0000006HP:0000006Autosomal dominant inheritance0EDN1 CL E G H1906612798Question mark ears, isolated612798C2748545OMIM111433176131240
HP:0000006HP:0000006Autosomal dominant inheritance0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0000006HP:0000006Autosomal dominant inheritance0EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM1211173178131242
HP:0000006HP:0000006Autosomal dominant inheritance0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM110413179131243
HP:0000006HP:0000006Autosomal dominant inheritance0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1701913180131244
HP:0000006HP:0000006Autosomal dominant inheritance0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM1122603192602959
HP:0000006HP:0000006Autosomal dominant inheritance0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0000006HP:0000006Autosomal dominant inheritance0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM141053214130610
HP:0000006HP:0000006Autosomal dominant inheritance0EFEMP1 CL E G H2202126600Doyne honeycomb retinal dystrophy126600C1832174OMIM191103218601548
HP:0000006HP:0000006Autosomal dominant inheritance0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0000006HP:0000006Autosomal dominant inheritance0EGLN1 CL E G H54583609820Erythrocytosis, familial, 3609820C1853286OMIM1672361232606425
HP:0000006HP:0000006Autosomal dominant inheritance0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM1241973239129010
HP:0000006HP:0000006Autosomal dominant inheritance0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM1241973239129010
HP:0000006HP:0000006Autosomal dominant inheritance0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241973239129010
HP:0000006HP:0000006Autosomal dominant inheritance0EHHADH CL E G H1962615605Fanconi renotubular syndrome 3615605C3810100OMIM111553247607037
HP:0000006HP:0000006Autosomal dominant inheritance0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000006HP:0000006Autosomal dominant inheritance0ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM12202283309130130
HP:0000006HP:0000006Autosomal dominant inheritance0ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM12202283309130130
HP:0000006HP:0000006Autosomal dominant inheritance0ELN CL E G H2006123700Cutis laxa, autosomal dominant 1123700C3276539OMIM11275233327130160
HP:0000006HP:0000006Autosomal dominant inheritance0ELN CL E G H2006185500Supravalvar aortic stenosis185500C0003499OMIM11275233327130160
HP:0000006HP:0000006Autosomal dominant inheritance0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000006HP:0000006Autosomal dominant inheritance0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM11712214415605512
HP:0000006HP:0000006Autosomal dominant inheritance0ELOVL4 CL E G H6785600110Stargardt Disease 3600110C1838644OMIM11712214415605512
HP:0000006HP:0000006Autosomal dominant inheritance0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM152121308611805
HP:0000006HP:0000006Autosomal dominant inheritance0ELP4 CL E G H26610617141Aniridia 2617141C0344543OMIM1272021171606985
HP:0000006HP:0000006Autosomal dominant inheritance0ENAM CL E G H10117104500Amelogenesis imperfecta - hypoplastic autosomal dominant - local104500C0399368OMIM1191363344606585
HP:0000006HP:0000006Autosomal dominant inheritance0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14977003349131195
HP:0000006HP:0000006Autosomal dominant inheritance0ENPP1 CL E G H5167615522Cole disease615522C3809781OMIM1772743356173335
HP:0000006HP:0000006Autosomal dominant inheritance0EP300 CL E G H2033114500Carcinoma of colon114500C0699790OMIM11074153373602700
HP:0000006HP:0000006Autosomal dominant inheritance0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000006HP:0000006Autosomal dominant inheritance0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0000006HP:0000006Autosomal dominant inheritance0EPAS1 CL E G H2034611783Erythrocytosis, familial, 4611783C2673187OMIM1331793374603349
HP:0000006HP:0000006Autosomal dominant inheritance0EPB41 CL E G H2035611804Elliptocytosis 1611804C2678497OMIM114323377130500
HP:0000006HP:0000006Autosomal dominant inheritance0EPB41L1 CL E G H2036614257Mental retardation, autosomal dominant 11614257C3280285OMIM14623378602879
HP:0000006HP:0000006Autosomal dominant inheritance0EPHA2 CL E G H1969116600Cataract 6, multiple types116600C1861825OMIM1221713386176946
HP:0000006HP:0000006Autosomal dominant inheritance0EPHB4 CL E G H2050617300Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to617300C4310629OMIM152913395600011
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB2 CL E G H2064137800Glioma susceptibility 1137800C2750850OMIM1121373430164870
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB2 CL E G H2064211980Lung cancer211980C0684249OMIM1121373430164870
HP:0000006HP:0000006Autosomal dominant inheritance0ERBB4 CL E G H2066615515Amyotrophic lateral sclerosis 19615515C3715155OMIM1251073432600543
HP:0000006HP:0000006Autosomal dominant inheritance0ERCC6 CL E G H2074616946Premature ovarian failure 11616946C4310783OMIM11404993438609413
HP:0000006HP:0000006Autosomal dominant inheritance0ERF CL E G H2077617180Chitayat syndrome617180C4310679OMIM119753444611888
HP:0000006HP:0000006Autosomal dominant inheritance0ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM119753444611888
HP:0000006HP:0000006Autosomal dominant inheritance0ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM1214521056615532
HP:0000006HP:0000006Autosomal dominant inheritance0ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM1381153467133430
HP:0000006HP:0000006Autosomal dominant inheritance0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM1138216817601755
HP:0000006HP:0000006Autosomal dominant inheritance0ETV6 CL E G H2120601626Acute myeloid leukemia601626C0023467OMIM139733495600618
HP:0000006HP:0000006Autosomal dominant inheritance0ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM139733495600618
HP:0000006HP:0000006Autosomal dominant inheritance0EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM1846523497604831
HP:0000006HP:0000006Autosomal dominant inheritance0EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM17656719747607261
HP:0000006HP:0000006Autosomal dominant inheritance0EXT1 CL E G H2131133700Multiple congenital exostosis133700C0015306OMIM15324093512608177
HP:0000006HP:0000006Autosomal dominant inheritance0EXT2 CL E G H2132133701Multiple exostoses type 2133701C1851413OMIM12582753513608210
HP:0000006HP:0000006Autosomal dominant inheritance0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM12212903519601653
HP:0000006HP:0000006Autosomal dominant inheritance0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12212903519601653
HP:0000006HP:0000006Autosomal dominant inheritance0EYA1 CL E G H2138166780Otofaciocervical syndrome 1166780C3714941OMIM12212903519601653
HP:0000006HP:0000006Autosomal dominant inheritance0EYA4 CL E G H2070601316Deafness, autosomal dominant 10601316C1832476OMIM1293103522603550
HP:0000006HP:0000006Autosomal dominant inheritance0EYA4 CL E G H2070605362Dilated cardiomyopathy 1J605362C1854368OMIM1293103522603550
HP:0000006HP:0000006Autosomal dominant inheritance0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0000006HP:0000006Autosomal dominant inheritance0F11 CL E G H2160612416Hereditary factor XI deficiency disease612416C0015523OMIM12743943529264900
HP:0000006HP:0000006Autosomal dominant inheritance0F12 CL E G H2161610618Hereditary angioneurotic edema with normal C1 esterase inhibitor activity610618C1857728OMIM1541193530610619
HP:0000006HP:0000006Autosomal dominant inheritance0F2 CL E G H2147188050Venous thrombosis188050C0042487OMIM170953535176930
HP:0000006HP:0000006Autosomal dominant inheritance0F5 CL E G H2153188055Thrombophilia due to activated protein C resistance188055C1861171OMIM11693293542612309
HP:0000006HP:0000006Autosomal dominant inheritance0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0000006HP:0000006Autosomal dominant inheritance0FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0000006HP:0000006Autosomal dominant inheritance0FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM171724200615584
HP:0000006HP:0000006Autosomal dominant inheritance0FAM83H CL E G H286077130900Amelogenesis imperfecta, hypocalcification type130900C0399376OMIM13411824797611927
HP:0000006HP:0000006Autosomal dominant inheritance0FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM114216911920134637
HP:0000006HP:0000006Autosomal dominant inheritance0FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM1119811936134638
HP:0000006HP:0000006Autosomal dominant inheritance0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM15773596604269
HP:0000006HP:0000006Autosomal dominant inheritance0FBLN1 CL E G H2192608180Synpolydactyly 2608180C1842422OMIM151003600135820
HP:0000006HP:0000006Autosomal dominant inheritance0FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM1231423602604580
HP:0000006HP:0000006Autosomal dominant inheritance0FBLN5 CL E G H10516614434Cutis laxa, autosomal dominant 2614434C3280794OMIM1231423602604580
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200102370Acromicric dysplasia102370C0265287OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200129600Ectopia lentis, isolated, autosomal dominant129600C1851286OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200604308MASS syndrome604308C1858556OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200184900Stiff skin syndrome184900C1861456OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0000006HP:0000006Autosomal dominant inheritance0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0000006HP:0000006Autosomal dominant inheritance0FBN2 CL E G H2201616118Macular degeneration, early-onset616118C4015286OMIM111314023604612570
HP:0000006HP:0000006Autosomal dominant inheritance0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM1519528844608533
HP:0000006HP:0000006Autosomal dominant inheritance0FCGR2C CL E G H9103188030Autoimmune thrombocytopenia188030C0398650OMIM152515626612169
HP:0000006HP:0000006Autosomal dominant inheritance0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0000006HP:0000006Autosomal dominant inheritance0FECH CL E G H2235177000Erythropoietic protoporphyria177000C0162568OMIM11952173647612386
HP:0000006HP:0000006Autosomal dominant inheritance0FEZF1 CL E G H389549146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM134122788613301
HP:0000006HP:0000006Autosomal dominant inheritance0FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11551103661134820
HP:0000006HP:0000006Autosomal dominant inheritance0FGF10 CL E G H2255180920Congenital absence of salivary gland180920C0158667OMIM116473666602115
HP:0000006HP:0000006Autosomal dominant inheritance0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM116473666602115
HP:0000006HP:0000006Autosomal dominant inheritance0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM110743668601513
HP:0000006HP:0000006Autosomal dominant inheritance0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM1101633671601515
HP:0000006HP:0000006Autosomal dominant inheritance0FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM15823673603725
HP:0000006HP:0000006Autosomal dominant inheritance0FGF17 CL E G H8822146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM15823673603725
HP:0000006HP:0000006Autosomal dominant inheritance0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM1201413680605380
HP:0000006HP:0000006Autosomal dominant inheritance0FGF5 CL E G H2250190330Trichomegaly190330C0854699OMIM15273683165190
HP:0000006HP:0000006Autosomal dominant inheritance0FGF8 CL E G H2253612702Kallmann syndrome 6612702C2675188OMIM141543686600483
HP:0000006HP:0000006Autosomal dominant inheritance0FGF9 CL E G H2254612961Multiple synostoses syndrome 3612961C2751826OMIM131463687600921
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H2260123150Jackson-Weiss syndrome123150C0795998OMIM12653883688136350
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM12653883688136350
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM12653883688136350
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR1 CL E G H2260190440Trigonocephaly 1190440C0432122OMIM12653883688136350
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263123150Jackson-Weiss syndrome123150C0795998OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261109800Bladder cancer, somatic109800C0005684OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261114500Carcinoma of colon114500C0699790OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261162900Epidermal nevus162900C0334082OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261146000Hypochondroplasia146000C0410529OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFR3 CL E G H2261187601Thanatophoric dysplasia, type 2187601C1300257OMIM1774313690134934
HP:0000006HP:0000006Autosomal dominant inheritance0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000006HP:0000006Autosomal dominant inheritance0FH CL E G H2271150800Multiple cutaneous leiomyomas150800C1708350OMIM12168903700136850
HP:0000006HP:0000006Autosomal dominant inheritance0FIG4 CL E G H9896612577Amyotrophic lateral sclerosis type 11612577C2675491OMIM17142516873609390
HP:0000006HP:0000006Autosomal dominant inheritance0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM14416118169607063
HP:0000006HP:0000006Autosomal dominant inheritance0FLCN CL E G H201163114500Carcinoma of colon114500C0699790OMIM1215103627310607273
HP:0000006HP:0000006Autosomal dominant inheritance0FLCN CL E G H201163135150Multiple fibrofolliculomas135150C0346010OMIM1215103627310607273
HP:0000006HP:0000006Autosomal dominant inheritance0FLCN CL E G H201163173600Pneumothorax, primary spontaneous173600C1868193OMIM1215103627310607273
HP:0000006HP:0000006Autosomal dominant inheritance0FLG CL E G H2312146700Ichthyosis vulgaris146700C0079584OMIM11141403748135940
HP:0000006HP:0000006Autosomal dominant inheritance0FLI1 CL E G H2313617443Bleeding disorder, platelet-type, 21617443C4479515OMIM171253749193067
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM11225203755603381
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H2317108721Atelosteogenesis type 3108721C3668942OMIM11225203755603381
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H2317112310Boomerang dysplasia112310C0432201OMIM11225203755603381
HP:0000006HP:0000006Autosomal dominant inheritance0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0000006HP:0000006Autosomal dominant inheritance0FLNC CL E G H2318617047Cardiomyopathy, familial hypertrophic, 26617047C4310749OMIM111416833756102565
HP:0000006HP:0000006Autosomal dominant inheritance0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM111416833756102565
HP:0000006HP:0000006Autosomal dominant inheritance0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM111416833756102565
HP:0000006HP:0000006Autosomal dominant inheritance0FLRT3 CL E G H23767615271Hypogonadotropic hypogonadism 21 with or without anosmia615271C3808986OMIM17413762604808
HP:0000006HP:0000006Autosomal dominant inheritance0FLRT3 CL E G H23767146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM17413762604808
HP:0000006HP:0000006Autosomal dominant inheritance0FLT3 CL E G H2322601626Acute myeloid leukemia601626C0023467OMIM131303765136351
HP:0000006HP:0000006Autosomal dominant inheritance0FLT4 CL E G H2324602089Hemangioma, capillary infantile602089C1865871OMIM1851753767136352
HP:0000006HP:0000006Autosomal dominant inheritance0FLT4 CL E G H2324153100Hereditary lymphedema type I153100C1704423OMIM1851753767136352
HP:0000006HP:0000006Autosomal dominant inheritance0FN1 CL E G H2335601894Glomerulopathy with fibronectin deposits 2601894C1866075OMIM1261283778135600
HP:0000006HP:0000006Autosomal dominant inheritance0FN1 CL E G H2335614101Plasma fibronectin deficiency614101C2675436OMIM1261283778135600
HP:0000006HP:0000006Autosomal dominant inheritance0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM1261283778135600
HP:0000006HP:0000006Autosomal dominant inheritance0FOXC1 CL E G H2296601631Anterior segment dysgenesis 3601631C1866560OMIM11392153800601090
HP:0000006HP:0000006Autosomal dominant inheritance0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11392153800601090
HP:0000006HP:0000006Autosomal dominant inheritance0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM197983801602402
HP:0000006HP:0000006Autosomal dominant inheritance0FOXF1 CL E G H2294265380Persistent fetal circulation265380C0031190OMIM11021103809601089
HP:0000006HP:0000006Autosomal dominant inheritance0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0000006HP:0000006Autosomal dominant inheritance0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000006HP:0000006Autosomal dominant inheritance0FOXL2 CL E G H668608996Premature ovarian failure 3608996C1837008OMIM12241661092605597
HP:0000006HP:0000006Autosomal dominant inheritance0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0000006HP:0000006Autosomal dominant inheritance0FOXP2 CL E G H93986602081Speech-language disorder 1602081C0750927OMIM13824913875605317
HP:0000006HP:0000006Autosomal dominant inheritance0FREM1 CL E G H158326614485Trigonocephaly 2614485C3280974OMIM13545423399608944
HP:0000006HP:0000006Autosomal dominant inheritance0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM121193954601278
HP:0000006HP:0000006Autosomal dominant inheritance0FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM1151673960607643
HP:0000006HP:0000006Autosomal dominant inheritance0FSHR CL E G H2492608115Ovarian hyperstimulation syndrome608115C0085083OMIM1411183969136435
HP:0000006HP:0000006Autosomal dominant inheritance0FTH1 CL E G H2495615517Hemochromatosis type 5615517CN181217OMIM13423976134770
HP:0000006HP:0000006Autosomal dominant inheritance0FTL CL E G H2512600886Hyperferritinemia cataract syndrome600886C1833213OMIM164913999134790
HP:0000006HP:0000006Autosomal dominant inheritance0FTL CL E G H2512615604L-ferritin deficiency615604C3810090OMIM164913999134790
HP:0000006HP:0000006Autosomal dominant inheritance0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM164913999134790
HP:0000006HP:0000006Autosomal dominant inheritance0FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM11132644010137070
HP:0000006HP:0000006Autosomal dominant inheritance0FUS CL E G H2521614782Tremor, hereditary essential, 4614782C3539195OMIM11132644010137070
HP:0000006HP:0000006Autosomal dominant inheritance0FXYD2 CL E G H486154020Renal magnesium wasting154020C1835171OMIM11524026601814
HP:0000006HP:0000006Autosomal dominant inheritance0FZD2 CL E G H2535164745Omodysplasia 2164745C2750355OMIM17304040600667
HP:0000006HP:0000006Autosomal dominant inheritance0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0000006HP:0000006Autosomal dominant inheritance0GABRA1 CL E G H2554615744Epileptic encephalopathy, early infantile, 19615744C3810400OMIM1483364075137160
HP:0000006HP:0000006Autosomal dominant inheritance0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15424081137190
HP:0000006HP:0000006Autosomal dominant inheritance0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM1675264083137192
HP:0000006HP:0000006Autosomal dominant inheritance0GABRG2 CL E G H2566611277Familial febrile seizures 8611277C1969810OMIM1473284087137164
HP:0000006HP:0000006Autosomal dominant inheritance0GAL CL E G H51083616461Epilepsy, familial temporal lobe, 8616461C4225318OMIM13464114137035
HP:0000006HP:0000006Autosomal dominant inheritance0GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM116514138104160
HP:0000006HP:0000006Autosomal dominant inheritance0GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM1414162600287
HP:0000006HP:0000006Autosomal dominant inheritance0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM1414162600287
HP:0000006HP:0000006Autosomal dominant inheritance0GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM11515164171137295
HP:0000006HP:0000006Autosomal dominant inheritance0GATA2 CL E G H2624614038Lymphedema, primary, with myelodysplasia614038C3279664OMIM11515164171137295
HP:0000006HP:0000006Autosomal dominant inheritance0GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM1901774172131320
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H2626607941Atrial septal defect 2607941C1842778OMIM11713414173600576
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H2626614430Atrioventricular septal defect 4614430C3280781OMIM11713414173600576
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H2626615542Testicular anomalies with or without congenital heart disease615542C3809858OMIM11713414173600576
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H2626187500Tetralogy of Fallot187500C0039685OMIM11713414173600576
HP:0000006HP:0000006Autosomal dominant inheritance0GATA4 CL E G H2626614429Ventricular septal defect 1614429C3280777OMIM11713414173600576
HP:0000006HP:0000006Autosomal dominant inheritance0GATA5 CL E G H140628617912CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5617912CN873437OMIM1325015802611496
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H2627614475Atrial septal defect 9614475C3280943OMIM1851724174601656
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H2627614474Atrioventricular septal defect 5614474C3280939OMIM1851724174601656
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM1851724174601656
HP:0000006HP:0000006Autosomal dominant inheritance0GATA6 CL E G H2627187500Tetralogy of Fallot187500C0039685OMIM1851724174601656
HP:0000006HP:0000006Autosomal dominant inheritance0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000006HP:0000006Autosomal dominant inheritance0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12522084193600225
HP:0000006HP:0000006Autosomal dominant inheritance0GCK CL E G H2645125853Diabetes mellitus type 2125853C0011860OMIM18484704195138079
HP:0000006HP:0000006Autosomal dominant inheritance0GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM18484704195138079
HP:0000006HP:0000006Autosomal dominant inheritance0GCK CL E G H2645125851Maturity-onset diabetes of the young, type 2125851C1841962OMIM18484704195138079
HP:0000006HP:0000006Autosomal dominant inheritance0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0000006HP:0000006Autosomal dominant inheritance0GCM2 CL E G H9247617343Hyperparathyroidism 4617343C4479229OMIM1211164198603716
HP:0000006HP:0000006Autosomal dominant inheritance0GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM1211164198603716
HP:0000006HP:0000006Autosomal dominant inheritance0GCNT2 CL E G H2651116700Cataract 13 with adult i phenotype116700C3805373OMIM1171754204600429
HP:0000006HP:0000006Autosomal dominant inheritance0GCNT2 CL E G H2651110800I blood group system110800C1862229OMIM1171754204600429
HP:0000006HP:0000006Autosomal dominant inheritance0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM110335115968606598
HP:0000006HP:0000006Autosomal dominant inheritance0GDF1 CL E G H2657613854Transposition of the great arteries, dextro-looped 3613854C3151221OMIM1151494214602880
HP:0000006HP:0000006Autosomal dominant inheritance0GDF2 CL E G H2658615506Telangiectasia, hereditary hemorrhagic, type 5615506C3809710OMIM1171684217605120
HP:0000006HP:0000006Autosomal dominant inheritance0GDF3 CL E G H9573613702Klippel-Feil syndrome 3, autosomal dominant613702C3150967OMIM16664218606522
HP:0000006HP:0000006Autosomal dominant inheritance0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000006HP:0000006Autosomal dominant inheritance0GDF5 CL E G