Human Phenotype Ontology 
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Clinical course (HP:0031797)help
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Onset (HP:0003674)help
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Congenital onset (HP:0003577)help
Term ID: 3577
Name: Congenital onset
Synonym: Intrauterine onset; Onset at birth; Onset in utero; Prenatal onset; Symptoms present at birth
Definition: A phenotypic abnormality that is present at birth.
Comments:
Reference: HP:0003577
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAdult onset (HP:0003581) help
..expandAntenatal onset (HP:0030674) help
..expandChildhood onset (HP:0011463) help
..expandInfantile onset (HP:0003593) help
..expandJuvenile onset (HP:0003621) help
..expandNeonatal onset (HP:0003623) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003577HP:0003577Congenital onset0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0003577HP:0003577Congenital onset0ABCA3 CL E G H21610921Surfactant metabolism dysfunction, pulmonary, 3610921C1970456OMIM164633601615
HP:0003577HP:0003577Congenital onset0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM130868603214
HP:0003577HP:0003577Congenital onset0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0003577HP:0003577Congenital onset0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM121517869604417
HP:0003577HP:0003577Congenital onset0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM123615672606941
HP:0003577HP:0003577Congenital onset0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM161559603531
HP:0003577HP:0003577Congenital onset0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1532566603401
HP:0003577HP:0003577Congenital onset0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0003577HP:0003577Congenital onset0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0003577HP:0003577Congenital onset0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0003577HP:0003577Congenital onset0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1122575607243
HP:0003577HP:0003577Congenital onset0ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM143914561300429
HP:0003577HP:0003577Congenital onset0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM146820730617612
HP:0003577HP:0003577Congenital onset0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM110224268614215
HP:0003577HP:0003577Congenital onset0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1120619048605481
HP:0003577HP:0003577Congenital onset0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM111625903614452
HP:0003577HP:0003577Congenital onset0ATP11C CL E G H286410301015HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED301015CN253426OMIM120213554300516
HP:0003577HP:0003577Congenital onset0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0003577HP:0003577Congenital onset0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1162823164360
HP:0003577HP:0003577Congenital onset0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1162823164360
HP:0003577HP:0003577Congenital onset0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1129854606939
HP:0003577HP:0003577Congenital onset0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0003577HP:0003577Congenital onset0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM116615685605517
HP:0003577HP:0003577Congenital onset0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM115413221606557
HP:0003577HP:0003577Congenital onset0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM133013222606558
HP:0003577HP:0003577Congenital onset0BICD2 CL E G H23299618291618291618291OMIM159017208609797
HP:0003577HP:0003577Congenital onset0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0003577HP:0003577Congenital onset0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM120914255602410
HP:0003577HP:0003577Congenital onset0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0003577HP:0003577Congenital onset0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM124916512606412
HP:0003577HP:0003577Congenital onset0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM145924564615944
HP:0003577HP:0003577Congenital onset0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1901382114815
HP:0003577HP:0003577Congenital onset0CCDC103 CL E G H388389614679Ciliary dyskinesia, primary, 17614679C3542550OMIM112732700614677
HP:0003577HP:0003577Congenital onset0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM127919967611204
HP:0003577HP:0003577Congenital onset0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11201583123833
HP:0003577HP:0003577Congenital onset0CD8A CL E G H925608957Cd8 deficiency, familial608957C1837065OMIM11471706186910
HP:0003577HP:0003577Congenital onset0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0003577HP:0003577Congenital onset0CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1861802602593
HP:0003577HP:0003577Congenital onset0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM13821857600236
HP:0003577HP:0003577Congenital onset0CENPJ CL E G H55835608393Primary autosomal recessive microcephaly 6608393C1842109OMIM143817272609279
HP:0003577HP:0003577Congenital onset0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM127729086611423
HP:0003577HP:0003577Congenital onset0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM121620311616327
HP:0003577HP:0003577Congenital onset0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0003577HP:0003577Congenital onset0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0003577HP:0003577Congenital onset0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11888740164010
HP:0003577HP:0003577Congenital onset0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0003577HP:0003577Congenital onset0CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0003577HP:0003577Congenital onset0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM14081965100720
HP:0003577HP:0003577Congenital onset0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0003577HP:0003577Congenital onset0CIB2 CL E G H10518614869Usher syndrome, type 1J614869C3553944OMIM118224579605564
HP:0003577HP:0003577Congenital onset0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13431985605629
HP:0003577HP:0003577Congenital onset0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11842026602024
HP:0003577HP:0003577Congenital onset0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13692027602023
HP:0003577HP:0003577Congenital onset0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM16116999608757
HP:0003577HP:0003577Congenital onset0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0003577HP:0003577Congenital onset0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0003577HP:0003577Congenital onset0COA5 CL E G H493753616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3616500C4225154OMIM13733848613920
HP:0003577HP:0003577Congenital onset0COASY CL E G H80347618266618266618266OMIM117529932609855
HP:0003577HP:0003577Congenital onset0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM131518621606977
HP:0003577HP:0003577Congenital onset0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0003577HP:0003577Congenital onset0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13972190120350
HP:0003577HP:0003577Congenital onset0COL25A1 CL E G H84570616219Fibrosis of extraocular muscles, congenital, 5616219C4015552OMIM14918603610004
HP:0003577HP:0003577Congenital onset0COL7A1 CL E G H1294131750Generalized dominant dystrophic epidermolysis bullosa131750C0432322OMIM126162214120120
HP:0003577HP:0003577Congenital onset0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM126162214120120
HP:0003577HP:0003577Congenital onset0COL7A1 CL E G H1294131705Transient bullous dermolysis of the newborn131705C1851573OMIM126162214120120
HP:0003577HP:0003577Congenital onset0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11222244601683
HP:0003577HP:0003577Congenital onset0CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM142018688609720
HP:0003577HP:0003577Congenital onset0CREB3L1 CL E G H90993616229Osteogenesis imperfecta, type xvi616229C4015610OMIM115718856616215
HP:0003577HP:0003577Congenital onset0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM179326193611654
HP:0003577HP:0003577Congenital onset0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0003577HP:0003577Congenital onset0DCHS1 CL E G H8642601390601390601390OMIM163613681603057
HP:0003577HP:0003577Congenital onset0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110629812610534
HP:0003577HP:0003577Congenital onset0DNAAF3 CL E G H352909606763Ciliary dyskinesia, primary, 2606763C1847554OMIM131130492614566
HP:0003577HP:0003577Congenital onset0DNAL1 CL E G H83544614017Ciliary dyskinesia, primary, 16614017C3151460OMIM111223247610062
HP:0003577HP:0003577Congenital onset0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0003577HP:0003577Congenital onset0DOCK2 CL E G H1794616433Immunodeficiency 40616433C4225328OMIM16652988603122
HP:0003577HP:0003577Congenital onset0DONSON CL E G H29980617604MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES617604C4539873OMIM11582993611428
HP:0003577HP:0003577Congenital onset0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0003577HP:0003577Congenital onset0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM11063003603527
HP:0003577HP:0003577Congenital onset0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11383006603564
HP:0003577HP:0003577Congenital onset0DSTYK CL E G H25778610805Congenital anomalies of kidney and urinary tract 1, susceptibility to610805C1835826OMIM110229043612666
HP:0003577HP:0003577Congenital onset0DVL1 CL E G H1855616331Robinow syndrome, autosomal dominant 2616331C4225363OMIM14923084601365
HP:0003577HP:0003577Congenital onset0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12913133300205
HP:0003577HP:0003577Congenital onset0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1973188605984
HP:0003577HP:0003577Congenital onset0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0003577HP:0003577Congenital onset0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM124214415605512
HP:0003577HP:0003577Congenital onset0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM114585959603722
HP:0003577HP:0003577Congenital onset0ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM111018248616054
HP:0003577HP:0003577Congenital onset0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0003577HP:0003577Congenital onset0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1121329331615068
HP:0003577HP:0003577Congenital onset0EPS8 CL E G H2059615974Deafness, autosomal recessive 102615974C3892050OMIM12143420600206
HP:0003577HP:0003577Congenital onset0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0003577HP:0003577Congenital onset0ERGIC1 CL E G H57222208100Arthrogryposis multiplex congenita neurogenic type208100C1859721OMIM12529205617946
HP:0003577HP:0003577Congenital onset0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0003577HP:0003577Congenital onset0F13A1 CL E G H2162613225Factor XIII subunit A deficiency613225C2750514OMIM11973531134570
HP:0003577HP:0003577Congenital onset0F13B CL E G H2165613235Factor XIII subunit B deficiency613235C2750481OMIM11113534134580
HP:0003577HP:0003577Congenital onset0F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11383535176930
HP:0003577HP:0003577Congenital onset0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM1131223109612411
HP:0003577HP:0003577Congenital onset0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003577HP:0003577Congenital onset0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM178717997606596
HP:0003577HP:0003577Congenital onset0FLT4 CL E G H2324153100Hereditary lymphedema type I153100C1704423OMIM12833767136352
HP:0003577HP:0003577Congenital onset0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1794019602589
HP:0003577HP:0003577Congenital onset0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM149513780606639
HP:0003577HP:0003577Congenital onset0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM127322932615320
HP:0003577HP:0003577Congenital onset0GPRASP2 CL E G H114928301018DEAFNESS, X-LINKED 7301018OMIM117325169300969
HP:0003577HP:0003577Congenital onset0GREB1L CL E G H80000617805RENAL HYPODYSPLASIA/APLASIA 3617805C4540497OMIM113931042617782
HP:0003577HP:0003577Congenital onset0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM1644612138890
HP:0003577HP:0003577Congenital onset0HBG2 CL E G H3048613977Cyanosis, transient neonatal613977C3151421OMIM1784832142250
HP:0003577HP:0003577Congenital onset0HCN4 CL E G H10021163800Sick sinus syndrome 2, autosomal dominant163800C1834144OMIM1121216882605206
HP:0003577HP:0003577Congenital onset0HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM11944861603946
HP:0003577HP:0003577Congenital onset0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM16184867605109
HP:0003577HP:0003577Congenital onset0HK1 CL E G H3098235700Hemolytic anemia due to hexokinase deficiency235700C0472792OMIM13914922142600
HP:0003577HP:0003577Congenital onset0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1325111142968
HP:0003577HP:0003577Congenital onset0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0003577HP:0003577Congenital onset0HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM15475173190020
HP:0003577HP:0003577Congenital onset0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM15330600709
HP:0003577HP:0003577Congenital onset0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM117827302615316
HP:0003577HP:0003577Congenital onset0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM112718550609382
HP:0003577HP:0003577Congenital onset0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11835464147440
HP:0003577HP:0003577Congenital onset0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM17135465147370
HP:0003577HP:0003577Congenital onset0ITGA2 CL E G H3673614200Platelet-type bleeding disorder 9614200C3280114OMIM13006137192974
HP:0003577HP:0003577Congenital onset0ITGA6 CL E G H3655226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM12156142147556
HP:0003577HP:0003577Congenital onset0ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM11586144604063
HP:0003577HP:0003577Congenital onset0ITGB4 CL E G H3691226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM14396158147557
HP:0003577HP:0003577Congenital onset0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM111346180147265
HP:0003577HP:0003577Congenital onset0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM120115532606871
HP:0003577HP:0003577Congenital onset0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM129068616650
HP:0003577HP:0003577Congenital onset0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM126953611565
HP:0003577HP:0003577Congenital onset0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM123419609367
HP:0003577HP:0003577Congenital onset0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM17446323602821
HP:0003577HP:0003577Congenital onset0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM11856325604593
HP:0003577HP:0003577Congenital onset0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1876345600599
HP:0003577HP:0003577Congenital onset0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM11176404615620
HP:0003577HP:0003577Congenital onset0KRT14 CL E G H3861601001Epidermolysis bullosa simplex, autosomal recessive601001C1832926OMIM11676416148066
HP:0003577HP:0003577Congenital onset0KRT5 CL E G H3852601001Epidermolysis bullosa simplex, autosomal recessive601001C1832926OMIM12586442148040
HP:0003577HP:0003577Congenital onset0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM132836482156225
HP:0003577HP:0003577Congenital onset0LAMA3 CL E G H3909226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM110196483600805
HP:0003577HP:0003577Congenital onset0LAMB3 CL E G H3914226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM18196490150310
HP:0003577HP:0003577Congenital onset0LAMC2 CL E G H3918226700Junctional epidermolysis bullosa gravis of Herlitz226700C0079683OMIM17236493150292
HP:0003577HP:0003577Congenital onset0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0003577HP:0003577Congenital onset0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0003577HP:0003577Congenital onset0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0003577HP:0003577Congenital onset0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM17906696604270
HP:0003577HP:0003577Congenital onset0LRTOMT CL E G H220074611451Deafness, autosomal recessive 63611451C1969621OMIM119025033612414
HP:0003577HP:0003577Congenital onset0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM113025133609728
HP:0003577HP:0003577Congenital onset0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM17115505606048
HP:0003577HP:0003577Congenital onset0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM124815455300294
HP:0003577HP:0003577Congenital onset0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM117786990300005
HP:0003577HP:0003577Congenital onset0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM152528845610197
HP:0003577HP:0003577Congenital onset0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0003577HP:0003577Congenital onset0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM17925897614397
HP:0003577HP:0003577Congenital onset0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11957096300204
HP:0003577HP:0003577Congenital onset0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM134624862601336
HP:0003577HP:0003577Congenital onset0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM18721606614738
HP:0003577HP:0003577Congenital onset0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM11057207604041
HP:0003577HP:0003577Congenital onset0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM110887208603785
HP:0003577HP:0003577Congenital onset0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM17014048609204
HP:0003577HP:0003577Congenital onset0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0003577HP:0003577Congenital onset0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM144119261614667
HP:0003577HP:0003577Congenital onset0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0003577HP:0003577Congenital onset0MYO7A CL E G H4647600060Deafness, autosomal recessive 2600060C1838701OMIM129247606276903
HP:0003577HP:0003577Congenital onset0MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM119229401612176
HP:0003577HP:0003577Congenital onset0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM136118704300013
HP:0003577HP:0003577Congenital onset0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM165319082611549
HP:0003577HP:0003577Congenital onset0NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM1148317619609449
HP:0003577HP:0003577Congenital onset0NDUFA2 CL E G H4695618235MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13618235OMIM1767685602137
HP:0003577HP:0003577Congenital onset0NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM18829918612911
HP:0003577HP:0003577Congenital onset0NDUFB11 CL E G H54539301021MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30301021OMIM118020372300403
HP:0003577HP:0003577Congenital onset0NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM17387728606384
HP:0003577HP:0003577Congenital onset0NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM119713387609799
HP:0003577HP:0003577Congenital onset0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM181729433300524
HP:0003577HP:0003577Congenital onset0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM122711825600635
HP:0003577HP:0003577Congenital onset0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM111357908602716
HP:0003577HP:0003577Congenital onset0NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12507989164790
HP:0003577HP:0003577Congenital onset0NUP37 CL E G H79023618179MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE618179OMIM11929929609264
HP:0003577HP:0003577Congenital onset0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM122021042610463
HP:0003577HP:0003577Congenital onset0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM17892567300170
HP:0003577HP:0003577Congenital onset0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM18288636608786
HP:0003577HP:0003577Congenital onset0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1156613406604918
HP:0003577HP:0003577Congenital onset0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM13898783600129
HP:0003577HP:0003577Congenital onset0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM128221350608769
HP:0003577HP:0003577Congenital onset0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13608854601758
HP:0003577HP:0003577Congenital onset0PGAP2 CL E G H27315614207Hyperphosphatasia with mental retardation syndrome 3614207C3280153OMIM18317893615187
HP:0003577HP:0003577Congenital onset0PI4KA CL E G H5297616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis616531C4225295OMIM16318983600286
HP:0003577HP:0003577Congenital onset0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM185525985616918
HP:0003577HP:0003577Congenital onset0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM18578967606097
HP:0003577HP:0003577Congenital onset0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM178723215614730
HP:0003577HP:0003577Congenital onset0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13628213610662
HP:0003577HP:0003577Congenital onset0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13389043603873
HP:0003577HP:0003577Congenital onset0PLEC CL E G H5339226730Epidermolysis bullosa junctionalis with pyloric atresia226730C1856934OMIM141529069601282
HP:0003577HP:0003577Congenital onset0PLEC CL E G H5339612138Epidermolysis bullosa simplex with pyloric atresia612138C2677349OMIM141529069601282
HP:0003577HP:0003577Congenital onset0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM140711397605031
HP:0003577HP:0003577Congenital onset0POLE CL E G H5426615139Facial dysmorphism, immunodeficiency, livedo, and short stature615139C3554576OMIM171639177174762
HP:0003577HP:0003577Congenital onset0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM178530074614258
HP:0003577HP:0003577Congenital onset0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM194319139606822
HP:0003577HP:0003577Congenital onset0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM194319139606822
HP:0003577HP:0003577Congenital onset0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM124426267615247
HP:0003577HP:0003577Congenital onset0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM154930228609557
HP:0003577HP:0003577Congenital onset0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM14113420617413
HP:0003577HP:0003577Congenital onset0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15989498176801
HP:0003577HP:0003577Congenital onset0PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM144319129610936
HP:0003577HP:0003577Congenital onset0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14124265608625
HP:0003577HP:0003577Congenital onset0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM119017042604819
HP:0003577HP:0003577Congenital onset0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM14339863601592
HP:0003577HP:0003577Congenital onset0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM151321406611524
HP:0003577HP:0003577Congenital onset0RFWD3 CL E G H55159617784FANCONI ANEMIA, COMPLEMENTATION GROUP W617784C4521564OMIM16425539614151
HP:0003577HP:0003577Congenital onset0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM119321176614917
HP:0003577HP:0003577Congenital onset0ROBO3 CL E G H64221607313Gaze palsy, familial horizontal, with progressive scoliosis607313C1846496OMIM123413433608630
HP:0003577HP:0003577Congenital onset0RSPH3 CL E G H83861616481Ciliary dyskinesia, primary, 32616481C4225311OMIM121021054615876
HP:0003577HP:0003577Congenital onset0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0003577HP:0003577Congenital onset0SCN5A CL E G H6331608567Sick sinus syndrome 1, autosomal recessive608567C1837845OMIM1317110593600163
HP:0003577HP:0003577Congenital onset0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM151410604604272
HP:0003577HP:0003577Congenital onset0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0003577HP:0003577Congenital onset0SERPINE1 CL E G H5054613329Plasminogen activator inhibitor type 1 deficiency613329C2750067OMIM11208583173360
HP:0003577HP:0003577Congenital onset0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM135510923300095
HP:0003577HP:0003577Congenital onset0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM114310942600229
HP:0003577HP:0003577Congenital onset0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM113614409606521
HP:0003577HP:0003577Congenital onset0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM18320662608744
HP:0003577HP:0003577Congenital onset0SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM127810990103220
HP:0003577HP:0003577Congenital onset0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM149313444606145
HP:0003577HP:0003577Congenital onset0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM111120862608732
HP:0003577HP:0003577Congenital onset0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM116811056601019
HP:0003577HP:0003577Congenital onset0SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM114611107601736
HP:0003577HP:0003577Congenital onset0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM119111132600322
HP:0003577HP:0003577Congenital onset0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM17611194601618
HP:0003577HP:0003577Congenital onset0SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0003577HP:0003577Congenital onset0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM128411326300090
HP:0003577HP:0003577Congenital onset0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM111716950606247
HP:0003577HP:0003577Congenital onset0STIL CL E G H6491612703Primary autosomal recessive microcephaly 7612703C2675187OMIM128010879181590
HP:0003577HP:0003577Congenital onset0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM11996172601134
HP:0003577HP:0003577Congenital onset0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM112930611608605
HP:0003577HP:0003577Congenital onset0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM134511535313650
HP:0003577HP:0003577Congenital onset0TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM115530740612805
HP:0003577HP:0003577Congenital onset0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM148228261616899
HP:0003577HP:0003577Congenital onset0TBXT CL E G H6862615709Sacral agenesis with vertebral anomalies615709C3810343OMIM16411515601397
HP:0003577HP:0003577Congenital onset0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM117529099611140
HP:0003577HP:0003577Congenital onset0TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM15811741600438
HP:0003577HP:0003577Congenital onset0TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM134137234614949
HP:0003577HP:0003577Congenital onset0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM125226050612418
HP:0003577HP:0003577Congenital onset0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM119815954613931
HP:0003577HP:0003577Congenital onset0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0003577HP:0003577Congenital onset0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0003577HP:0003577Congenital onset0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM111424284614139
HP:0003577HP:0003577Congenital onset0TRIM36 CL E G H55521206500Anencephalus206500C0002902OMIM13616280609317
HP:0003577HP:0003577Congenital onset0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM113912310604501
HP:0003577HP:0003577Congenital onset0TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM113912310604501
HP:0003577HP:0003577Congenital onset0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM13126022615423
HP:0003577HP:0003577Congenital onset0TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM15316791608756
HP:0003577HP:0003577Congenital onset0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM123928422608753
HP:0003577HP:0003577Congenital onset0TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM130427561608755
HP:0003577HP:0003577Congenital onset0TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM130427561608755
HP:0003577HP:0003577Congenital onset0TSEN54 CL E G H283989610204Pontocerebellar hypoplasia type 5610204C1857762OMIM130427561608755
HP:0003577HP:0003577Congenital onset0TTC25 CL E G H83538617092Ciliary dyskinesia, primary, 35617092C4310721OMIM125280617095
HP:0003577HP:0003577Congenital onset0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM12285912403188840
HP:0003577HP:0003577Congenital onset0TUBA8 CL E G H51807613180Polymicrogyria with optic nerve hypoplasia613180C2750798OMIM124212410605742
HP:0003577HP:0003577Congenital onset0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM18520778191130
HP:0003577HP:0003577Congenital onset0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM124720772602661
HP:0003577HP:0003577Congenital onset0TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM135416691609610
HP:0003577HP:0003577Congenital onset0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1154118127610053
HP:0003577HP:0003577Congenital onset0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM15017772609063
HP:0003577HP:0003577Congenital onset0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM140112442606933
HP:0003577HP:0003577Congenital onset0UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM12834399616097
HP:0003577HP:0003577Congenital onset0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115812592606938
HP:0003577HP:0003577Congenital onset0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM114912616607057
HP:0003577HP:0003577Congenital onset0VIM CL E G H7431116300Cataract 30116300C3805411OMIM17912692193060
HP:0003577HP:0003577Congenital onset0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM150712698192977
HP:0003577HP:0003577Congenital onset0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM138512718602168
HP:0003577HP:0003577Congenital onset0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM168724502613583
HP:0003577HP:0003577Congenital onset0WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM126626600614218
HP:0003577HP:0003577Congenital onset0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM124621143614064
HP:0003577HP:0003577Congenital onset0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0003577HP:0003577Congenital onset0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (262) :AARS ABCA3 ABCD4 ACTA1 AFF4 ALG9 AP1S1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 ARHGEF9 ARMC9 ASCC1 ASPM ATAD1 ATP11C ATP2B3 ATP5F1A ATP6V1B2 ATP8A2 B4GAT1 BCL11A BCL11B BICD2 BRAF BRPF1 BSCL2 BSND C2CD3 CA8 CCDC103 CCDC88C CCND2 CD8A CDK5 CDSN CENPF CENPJ CEP135 CHAMP1 CHAT CHKB CHMP1A CHRNB1 CHRND CHRNE CIB2 CIT CLCNKA CLCNKB CLP1 CLPB CNTNAP1 COA5 COASY COG6 COL13A1 COL25A1 COL7A1 COQ7 CRB2 CREB3L1 CSPP1 CTSD DCHS1 DCPS DNAAF3 DNAL1 DNM2 DOCK2 DONSON DPAGT1 DPH1 DPM2 DSTYK DVL1 EBP EED EGR2 ELOVL4 ELP1 ELP2 EP300 EPG5 EPS8 ERCC1 ERGIC1 EXOSC3 F13A1 F13B F2 FAT4 FKRP FLT4 FUT8 GFM1 GMPPB GPRASP2 GREB1L GSC HBG2 HCN4 HELLS HERC1 HK1 HOXB1 HPGD HRAS IARS IBA57 IER3IP1 IGF1 IGF1R ITGA2 ITGA6 ITGA8 ITGB4 ITPR1 JAM3 KIAA0556 KIAA1109 KIF1BP KIF5A KIF5C KLF1 KPTN KRT14 KRT5 LAMA2 LAMA3 LAMB3 LAMC2 LARS2 LGI4 LIPT2 LRP4 LRTOMT MARS2 MBOAT7 MBTPS2 MECP2 MED25 MEGF10 MFSD2A MID2 MOGS MPC1 MPDU1 MPDZ MRPS16 MRPS22 MTO1 MYH7 MYO7A MYSM1 NAA10 NALCN NDE1 NDUFA2 NDUFAF3 NDUFB11 NEDD4L NEK8 NEXMIF NKX2-1 NPHS1 NRAS NUP37 NUS1 OFD1 PC PCLO PDE4D PDHX PEX12 PGAP2 PI4KA PIGG PIGN PIGO PIGY PLAA PLEC PLK4 POLE POLR3A POMGNT1 POMK PREPL PRUNE1 PSAP PSAT1 PTRH2 PUF60 RAPSN RARS2 RFWD3 RMND1 ROBO3 RSPH3 RYR1 SCN5A SCO2 SELENON SERPINE1 SLC16A2 SLC1A4 SLC25A19 SLC25A24 SLC25A4 SLC2A10 SLC39A8 SLC6A9 SMARCD2 SNAP25 SOX18 SPTBN4 SSR4 STAMBP STIL STT3A STT3B TAF1 TARS2 TBCK TBXT TELO2 TFAM TMEM231 TMEM70 TOE1 TPM2 TPM3 TRAPPC12 TRIM36 TRIP4 TRMT10C TSEN15 TSEN2 TSEN54 TTC25 TTN TUBA8 TUBB TUBB3 TUBGCP4 TUBGCP6 TXN2 TYR UQCC3 UROS USP18 VIM VLDLR VRK1 WDR62 WDR81 ZBTB24 ZC4H2 ZNF335

Diseases (261) :616339 610921 614857 255310 616368 263210 609313 608233 614066 613744 612936 614067 300607 617622 616867 608716 618011 301015 302500 616045 615228 124480 615268 615287 617101 617237 618291 115150 617333 269700 602522 615948 613227 614679 236600 615938 608957 616342 270300 243605 608393 614673 616579 254210 602541 614961 616313 616314 616323 605809 614869 617090 613090 615803 616271 618186 616500 618266 614576 615328 616720 616219 131750 226600 131705 616733 219730 616229 615636 610127 601390 616459 606763 614017 615368 616433 617604 608093 616901 615042 610805 616331 302960 617561 605253 614457 223900 617270 613684 242840 615974 610758 208100 614678 613225 613235 613679 615546 606612 613153 153100 618005 609060 615350 301018 617805 602471 613977 163800 616911 617011 235700 614744 259100 137550 617093 615330 614231 608747 270450 614200 226730 191830 117360 613730 616784 617822 609460 617235 615282 613673 615637 601001 607855 226700 617021 617468 617668 616304 611451 616430 617188 308205 300673 616449 614399 616486 300928 606056 614741 609180 615219 610498 611719 614702 600060 618116 300855 616266 614019 618235 618240 301021 617201 615415 300912 610978 256300 618179 617082 311200 266150 608027 614613 245349 266510 614207 616531 616917 614080 614749 616809 617527 612138 616171 615139 264090 613151 253280 615249 616224 617481 611721 616038 616263 615583 616326 611523 617784 614922 607313 616481 608567 604377 613329 300523 616657 607196 612289 617184 208050 616721 617301 617475 616330 137940 617519 300934 614261 612703 615596 615597 300966 615918 616900 615709 616954 617156 614970 614052 614969 617669 206500 617066 616866 616974 617026 612389 277470 225753 610204 617092 611705 613180 615771 614039 616335 251270 616811 203100 616111 263700 617397 116300 224050 607596 604317 617967 614069 314580 615095
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.