Human Phenotype Ontology 
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Onset (HP:0003674)help
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Infantile onset (HP:0003593)help
Term ID: 3593
Name: Infantile onset
Synonym: Infantile onset; Onset in first year of life; Onset in infancy
Definition: Onset of signs or symptoms of disease between 28 days to one year of life.
Comments:
Reference: HP:0003593
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAdult onset (HP:0003581) help
..expandAntenatal onset (HP:0030674) help
..expandChildhood onset (HP:0011463) help
..expandCongenital onset (HP:0003577) 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:0003593HP:0003593Infantile onset0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM111817366605113
HP:0003593HP:0003593Infantile onset0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM196742603201
HP:0003593HP:0003593Infantile onset0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM145345171060
HP:0003593HP:0003593Infantile onset0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM15067170995
HP:0003593HP:0003593Infantile onset0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM130191600301
HP:0003593HP:0003593Infantile onset0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0003593HP:0003593Infantile onset0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0003593HP:0003593Infantile onset0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM182120601641
HP:0003593HP:0003593Infantile onset0ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM152201603709
HP:0003593HP:0003593Infantile onset0ADAR CL E G H103127400Symmetrical dyschromatosis of extremities127400C0406775OMIM1818225146920
HP:0003593HP:0003593Infantile onset0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM19325151615302
HP:0003593HP:0003593Infantile onset0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1117245601568
HP:0003593HP:0003593Infantile onset0ADGRV1 CL E G H84059604352Febrile seizures, familial, 4604352C1858493OMIM1356617416602851
HP:0003593HP:0003593Infantile onset0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM190257102750
HP:0003593HP:0003593Infantile onset0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM135615766611386
HP:0003593HP:0003593Infantile onset0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0003593HP:0003593Infantile onset0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0003593HP:0003593Infantile onset0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0003593HP:0003593Infantile onset0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14878768300169
HP:0003593HP:0003593Infantile onset0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0003593HP:0003593Infantile onset0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1634391164730
HP:0003593HP:0003593Infantile onset0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0003593HP:0003593Infantile onset0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM119632456613666
HP:0003593HP:0003593Infantile onset0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM180330881300776
HP:0003593HP:0003593Infantile onset0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0003593HP:0003593Infantile onset0AMMECR1 CL E G H9949300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis300990C4310810OMIM1197467300195
HP:0003593HP:0003593Infantile onset0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1218560300629
HP:0003593HP:0003593Infantile onset0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0003593HP:0003593Infantile onset0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM148315853605371
HP:0003593HP:0003593Infantile onset0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM17129561611647
HP:0003593HP:0003593Infantile onset0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM124219088607999
HP:0003593HP:0003593Infantile onset0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM123223805612991
HP:0003593HP:0003593Infantile onset0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0003593HP:0003593Infantile onset0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0003593HP:0003593Infantile onset0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM15093706602397
HP:0003593HP:0003593Infantile onset0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM122818802608918
HP:0003593HP:0003593Infantile onset0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1197890600529
HP:0003593HP:0003593Infantile onset0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1100989603517
HP:0003593HP:0003593Infantile onset0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0003593HP:0003593Infantile onset0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0003593HP:0003593Infantile onset0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM123314211604515
HP:0003593HP:0003593Infantile onset0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17624415613183
HP:0003593HP:0003593Infantile onset0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM117611551604902
HP:0003593HP:0003593Infantile onset0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM124829521615140
HP:0003593HP:0003593Infantile onset0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM1571371603263
HP:0003593HP:0003593Infantile onset0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM18791424114010
HP:0003593HP:0003593Infantile onset0CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM166016393607210
HP:0003593HP:0003593Infantile onset0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003593HP:0003593Infantile onset0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1117629253612013
HP:0003593HP:0003593Infantile onset0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM17028178613734
HP:0003593HP:0003593Infantile onset0CCT5 CL E G H22948256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive256840C1850395OMIM13141618610150
HP:0003593HP:0003593Infantile onset0CD247 CL E G H919610163Immunodeficiency due to defect in cd3-zeta610163C1857798OMIM11451677186780
HP:0003593HP:0003593Infantile onset0CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM11491673186790
HP:0003593HP:0003593Infantile onset0CD3E CL E G H916615615Immunodeficiency 18615615C3810127OMIM11691674186830
HP:0003593HP:0003593Infantile onset0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1641689107271
HP:0003593HP:0003593Infantile onset0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM11221699147245
HP:0003593HP:0003593Infantile onset0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1152711411300203
HP:0003593HP:0003593Infantile onset0CEP104 CL E G H9731616781Joubert syndrome 25616781C4084842OMIM141124866616690
HP:0003593HP:0003593Infantile onset0CHD1 CL E G H1105617682PILAROWSKI-BJORNSSON SYNDROME617682C4540131OMIM11061915602118
HP:0003593HP:0003593Infantile onset0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM12101918602120
HP:0003593HP:0003593Infantile onset0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0003593HP:0003593Infantile onset0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0003593HP:0003593Infantile onset0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0003593HP:0003593Infantile onset0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0003593HP:0003593Infantile onset0CLIC5 CL E G H53405616042Deafness, autosomal recessive 103616042C4015050OMIM111013517607293
HP:0003593HP:0003593Infantile onset0CLPX CL E G H10845618015PROTOPORPHYRIA, ERYTHROPOIETIC, 2618015CN248523OMIM1452088615611
HP:0003593HP:0003593Infantile onset0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM11776546606974
HP:0003593HP:0003593Infantile onset0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003593HP:0003593Infantile onset0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003593HP:0003593Infantile onset0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003593HP:0003593Infantile onset0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0003593HP:0003593Infantile onset0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM117520233614647
HP:0003593HP:0003593Infantile onset0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM13402252605000
HP:0003593HP:0003593Infantile onset0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0003593HP:0003593Infantile onset0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0003593HP:0003593Infantile onset0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15516232607976
HP:0003593HP:0003593Infantile onset0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM17202330600650
HP:0003593HP:0003593Infantile onset0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0003593HP:0003593Infantile onset0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13832498604927
HP:0003593HP:0003593Infantile onset0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM14682514116806
HP:0003593HP:0003593Infantile onset0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM110119347610648
HP:0003593HP:0003593Infantile onset0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM16625613616120
HP:0003593HP:0003593Infantile onset0CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11192561162643
HP:0003593HP:0003593Infantile onset0CYB5A CL E G H1528250790Methemoglobinemia type 4250790C2673427OMIM11622570613218
HP:0003593HP:0003593Infantile onset0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM18320580608713
HP:0003593HP:0003593Infantile onset0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14962666128239
HP:0003593HP:0003593Infantile onset0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0003593HP:0003593Infantile onset0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM120118141605755
HP:0003593HP:0003593Infantile onset0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13882714300121
HP:0003593HP:0003593Infantile onset0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13652719107930
HP:0003593HP:0003593Infantile onset0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11872728602202
HP:0003593HP:0003593Infantile onset0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM16022745300160
HP:0003593HP:0003593Infantile onset0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0003593HP:0003593Infantile onset0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM17416716616423
HP:0003593HP:0003593Infantile onset0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0003593HP:0003593Infantile onset0DNAAF4 CL E G H161582615482Primary ciliary dyskinesia 25615482C3809641OMIM120621493608706
HP:0003593HP:0003593Infantile onset0DNAAF5 CL E G H54919614874Ciliary dyskinesia, primary, 18614874C3543825OMIM149926013614864
HP:0003593HP:0003593Infantile onset0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1118419190615730
HP:0003593HP:0003593Infantile onset0DOCK8 CL E G H81704243700Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive243700C1968689OMIM1225419191611432
HP:0003593HP:0003593Infantile onset0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0003593HP:0003593Infantile onset0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0003593HP:0003593Infantile onset0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM122919087607407
HP:0003593HP:0003593Infantile onset0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM14926114609842
HP:0003593HP:0003593Infantile onset0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM14933192602959
HP:0003593HP:0003593Infantile onset0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM14933192602959
HP:0003593HP:0003593Infantile onset0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0003593HP:0003593Infantile onset0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0003593HP:0003593Infantile onset0ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM14323309130130
HP:0003593HP:0003593Infantile onset0EPO CL E G H2056617911DIAMOND-BLACKFAN ANEMIA-LIKE617911CN873436OMIM1463415133170
HP:0003593HP:0003593Infantile onset0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM16023436133520
HP:0003593HP:0003593Infantile onset0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM111703438609413
HP:0003593HP:0003593Infantile onset0ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13903439609412
HP:0003593HP:0003593Infantile onset0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM15323513608210
HP:0003593HP:0003593Infantile onset0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0003593HP:0003593Infantile onset0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM134323151607901
HP:0003593HP:0003593Infantile onset0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM17833622607440
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0003593HP:0003593Infantile onset0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0003593HP:0003593Infantile onset0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM125383754300017
HP:0003593HP:0003593Infantile onset0FMN2 CL E G H56776616193Mental retardation, autosomal recessive 47616193C4015444OMIM121814074606373
HP:0003593HP:0003593Infantile onset0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM125526927613622
HP:0003593HP:0003593Infantile onset0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM14298079300628
HP:0003593HP:0003593Infantile onset0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM135229007300838
HP:0003593HP:0003593Infantile onset0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM13604042604579
HP:0003593HP:0003593Infantile onset0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM11734081137190
HP:0003593HP:0003593Infantile onset0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM17324083137192
HP:0003593HP:0003593Infantile onset0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11894092605363
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM13294170305371
HP:0003593HP:0003593Infantile onset0GATA1 CL E G H2623300367GATA-1-related thrombocytopenia with dyserythropoiesis300367C1845837OMIM13294170305371
HP:0003593HP:0003593Infantile onset0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM129130778614998
HP:0003593HP:0003593Infantile onset0GATM CL E G H2628612718Arginine:glycine amidinotransferase deficiency612718C2675179OMIM13594175602360
HP:0003593HP:0003593Infantile onset0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13644193600225
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003593HP:0003593Infantile onset0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0003593HP:0003593Infantile onset0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM115215717606969
HP:0003593HP:0003593Infantile onset0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM13604235137780
HP:0003593HP:0003593Infantile onset0GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11044238604383
HP:0003593HP:0003593Infantile onset0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0003593HP:0003593Infantile onset0GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0003593HP:0003593Infantile onset0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15164284121011
HP:0003593HP:0003593Infantile onset0GJB3 CL E G H2707133200Erythrokeratodermia variabilis133200C0265961OMIM11714285603324
HP:0003593HP:0003593Infantile onset0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM125017494608803
HP:0003593HP:0003593Infantile onset0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13814326138491
HP:0003593HP:0003593Infantile onset0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12874329138492
HP:0003593HP:0003593Infantile onset0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM14454392139320
HP:0003593HP:0003593Infantile onset0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0003593HP:0003593Infantile onset0GP6 CL E G H51206614201Platelet-type bleeding disorder 11614201C3280120OMIM111014388605546
HP:0003593HP:0003593Infantile onset0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0003593HP:0003593Infantile onset0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1764455138420
HP:0003593HP:0003593Infantile onset0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM198215465603930
HP:0003593HP:0003593Infantile onset0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11584576602368
HP:0003593HP:0003593Infantile onset0GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM11234580138244
HP:0003593HP:0003593Infantile onset0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0003593HP:0003593Infantile onset0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM15194588602717
HP:0003593HP:0003593Infantile onset0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12164593604473
HP:0003593HP:0003593Infantile onset0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0003593HP:0003593Infantile onset0HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM125616915605998
HP:0003593HP:0003593Infantile onset0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM16864839300019
HP:0003593HP:0003593Infantile onset0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM124726361611642
HP:0003593HP:0003593Infantile onset0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16414868605837
HP:0003593HP:0003593Infantile onset0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM17704878606869
HP:0003593HP:0003593Infantile onset0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11714908610690
HP:0003593HP:0003593Infantile onset0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM15226938614908
HP:0003593HP:0003593Infantile onset0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12824921143054
HP:0003593HP:0003593Infantile onset0HNF1A CL E G H6927600496Maturity-onset diabetes of the young, type 3600496C1838100OMIM172511621142410
HP:0003593HP:0003593Infantile onset0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1425028605238
HP:0003593HP:0003593Infantile onset0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0003593HP:0003593Infantile onset0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12224800300256
HP:0003593HP:0003593Infantile onset0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0003593HP:0003593Infantile onset0HYDIN CL E G H54768608647Ciliary dyskinesia, primary, 5608647C1837615OMIM113019368610812
HP:0003593HP:0003593Infantile onset0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1128429077614620
HP:0003593HP:0003593Infantile onset0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1805541147020
HP:0003593HP:0003593Infantile onset0IGLL1 CL E G H3543613500Agammaglobulinemia 2, autosomal recessive613500C3150750OMIM12755870146770
HP:0003593HP:0003593Infantile onset0IKBKB CL E G H3551615592Immunodeficiency 15615592C3810043OMIM13145960603258
HP:0003593HP:0003593Infantile onset0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM1726005605384
HP:0003593HP:0003593Infantile onset0ILDR1 CL E G H286676609646Deafness, autosomal recessive 42609646C1864818OMIM118028741609739
HP:0003593HP:0003593Infantile onset0IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM14276052146690
HP:0003593HP:0003593Infantile onset0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM14428660611006
HP:0003593HP:0003593Infantile onset0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM17186143600536
HP:0003593HP:0003593Infantile onset0ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM12436176147520
HP:0003593HP:0003593Infantile onset0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM113086188601920
HP:0003593HP:0003593Infantile onset0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003593HP:0003593Infantile onset0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM11886217602703
HP:0003593HP:0003593Infantile onset0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM13256220176262
HP:0003593HP:0003593Infantile onset0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM15186231600397
HP:0003593HP:0003593Infantile onset0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM14136250603305
HP:0003593HP:0003593Infantile onset0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13356256602208
HP:0003593HP:0003593Infantile onset0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0003593HP:0003593Infantile onset0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM116896296602235
HP:0003593HP:0003593Infantile onset0KCNT2 CL E G H343450617771EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57617771C4540411OMIM18318866610044
HP:0003593HP:0003593Infantile onset0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM113318039605393
HP:0003593HP:0003593Infantile onset0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM131129508615759
HP:0003593HP:0003593Infantile onset0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0003593HP:0003593Infantile onset0KITLG CL E G H4254145250Familial progressive hyperpigmentation with or without hypopigmentation145250C1840392OMIM1826343184745
HP:0003593HP:0003593Infantile onset0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM125815646611119
HP:0003593HP:0003593Infantile onset0KRT81 CL E G H3887158000Beaded hair158000C0546966OMIM11016458602153
HP:0003593HP:0003593Infantile onset0KRT83 CL E G H3889158000Beaded hair158000C0546966OMIM11256460602765
HP:0003593HP:0003593Infantile onset0KRT86 CL E G H3892158000Beaded hair158000C0546966OMIM11086463601928
HP:0003593HP:0003593Infantile onset0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0003593HP:0003593Infantile onset0LAMA3 CL E G H3909245660Laryngoonychocutaneous syndrome245660C1328355OMIM110196483600805
HP:0003593HP:0003593Infantile onset0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0003593HP:0003593Infantile onset0LCK CL E G H3932615758Immunodeficiency 22615758C4014233OMIM11626524153390
HP:0003593HP:0003593Infantile onset0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM19829569610284
HP:0003593HP:0003593Infantile onset0LMAN2L CL E G H81562616887Mental retardation, autosomal recessive 52616887C4225168OMIM17319263609552
HP:0003593HP:0003593Infantile onset0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM121623038612625
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM113546697603506
HP:0003593HP:0003593Infantile onset0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM113546697603506
HP:0003593HP:0003593Infantile onset0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0003593HP:0003593Infantile onset0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0003593HP:0003593Infantile onset0MAST1 CL E G H22983618273618273618273OMIM17919034612256
HP:0003593HP:0003593Infantile onset0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM153813356605248
HP:0003593HP:0003593Infantile onset0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM170422962608771
HP:0003593HP:0003593Infantile onset0METTL23 CL E G H124512615942Mental retardation, autosomal recessive 44615942C4014745OMIM15626988615262
HP:0003593HP:0003593Infantile onset0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111724858614785
HP:0003593HP:0003593Infantile onset0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003593HP:0003593Infantile onset0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM11857104602241
HP:0003593HP:0003593Infantile onset0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM157817082605908
HP:0003593HP:0003593Infantile onset0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM141818871607481
HP:0003593HP:0003593Infantile onset0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM143224525609831
HP:0003593HP:0003593Infantile onset0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM123225221611935
HP:0003593HP:0003593Infantile onset0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0003593HP:0003593Infantile onset0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0003593HP:0003593Infantile onset0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0003593HP:0003593Infantile onset0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM111616650611849
HP:0003593HP:0003593Infantile onset0MRPS2 CL E G H51116617950COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36617950CN244569OMIM16914495611971
HP:0003593HP:0003593Infantile onset0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM17014499611974
HP:0003593HP:0003593Infantile onset0MTFMT CL E G H123263618248MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27618248OMIM118129666611766
HP:0003593HP:0003593Infantile onset0MTOR CL E G H2475607341Focal cortical dysplasia type II607341C1846385OMIM116713942601231
HP:0003593HP:0003593Infantile onset0MTR CL E G H4548250940METHYLCOBALAMIN DEFICIENCY, cblG TYPE250940C1855128OMIM17447468156570
HP:0003593HP:0003593Infantile onset0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM16687473602568
HP:0003593HP:0003593Infantile onset0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0003593HP:0003593Infantile onset0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM136127577160760
HP:0003593HP:0003593Infantile onset0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17533778615345
HP:0003593HP:0003593Infantile onset0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM12497602160777
HP:0003593HP:0003593Infantile onset0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11837631104170
HP:0003593HP:0003593Infantile onset0NDUFA10 CL E G H4705618243MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22618243OMIM13737684603835
HP:0003593HP:0003593Infantile onset0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM12117194609435
HP:0003593HP:0003593Infantile onset0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110818828606934
HP:0003593HP:0003593Infantile onset0NDUFB8 CL E G H4714618252MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32618252OMIM1487703602140
HP:0003593HP:0003593Infantile onset0NDUFB9 CL E G H4715618245MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24618245OMIM11187704601445
HP:0003593HP:0003593Infantile onset0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0003593HP:0003593Infantile onset0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM11787708602985
HP:0003593HP:0003593Infantile onset0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0003593HP:0003593Infantile onset0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM12257716161015
HP:0003593HP:0003593Infantile onset0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM11917717600532
HP:0003593HP:0003593Infantile onset0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003593HP:0003593Infantile onset0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0003593HP:0003593Infantile onset0NFKBIA CL E G H4792612132Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant612132C2677481OMIM12097797164008
HP:0003593HP:0003593Infantile onset0NGF CL E G H4803608654Congenital sensory neuropathy with selective loss of small myelinated fibers608654C0020075OMIM11617808162030
HP:0003593HP:0003593Infantile onset0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM117219321605955
HP:0003593HP:0003593Infantile onset0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM185722938609648
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM175216400606416
HP:0003593HP:0003593Infantile onset0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM175216400606416
HP:0003593HP:0003593Infantile onset0NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM12477979600983
HP:0003593HP:0003593Infantile onset0NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM19818031191315
HP:0003593HP:0003593Infantile onset0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13818148300127
HP:0003593HP:0003593Infantile onset0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1438590602590
HP:0003593HP:0003593Infantile onset0PARN CL E G H5073616353Dyskeratosis congenita, autosomal recessive 6616353C4225356OMIM14438609604212
HP:0003593HP:0003593Infantile onset0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM12978616167409
HP:0003593HP:0003593Infantile onset0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM12288657605622
HP:0003593HP:0003593Infantile onset0PCDH15 CL E G H65217609533Deafness, autosomal recessive 23609533C1836027OMIM1232314674605514
HP:0003593HP:0003593Infantile onset0PCDH19 CL E G H57526300088Early infantile epileptic encephalopathy 9300088C1848137OMIM1112014270300460
HP:0003593HP:0003593Infantile onset0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM11708724614168
HP:0003593HP:0003593Infantile onset0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0003593HP:0003593Infantile onset0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16018806300502
HP:0003593HP:0003593Infantile onset0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11289279605993
HP:0003593HP:0003593Infantile onset0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM19723719611801
HP:0003593HP:0003593Infantile onset0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM124915673612870
HP:0003593HP:0003593Infantile onset0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11718931172471
HP:0003593HP:0003593Infantile onset0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0003593HP:0003593Infantile onset0PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM13688979171833
HP:0003593HP:0003593Infantile onset0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM130114581608309
HP:0003593HP:0003593Infantile onset0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0003593HP:0003593Infantile onset0PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM19939066600220
HP:0003593HP:0003593Infantile onset0PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM122929515611893
HP:0003593HP:0003593Infantile onset0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0003593HP:0003593Infantile onset0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13919086300401
HP:0003593HP:0003593Infantile onset0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0003593HP:0003593Infantile onset0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0003593HP:0003593Infantile onset0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM14269153609023
HP:0003593HP:0003593Infantile onset0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM19028900612123
HP:0003593HP:0003593Infantile onset0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM119179179174763
HP:0003593HP:0003593Infantile onset0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0003593HP:0003593Infantile onset0POMC CL E G H5443609734Proopiomelanocortin deficiency609734C1857854OMIM11079201176830
HP:0003593HP:0003593Infantile onset0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM124426267615247
HP:0003593HP:0003593Infantile onset0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM17379202607423
HP:0003593HP:0003593Infantile onset0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM17379202607423
HP:0003593HP:0003593Infantile onset0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003593HP:0003593Infantile onset0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1409352176763
HP:0003593HP:0003593Infantile onset0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM13459399176977
HP:0003593HP:0003593Infantile onset0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM127619413600899
HP:0003593HP:0003593Infantile onset0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM113125557610087
HP:0003593HP:0003593Infantile onset0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0003593HP:0003593Infantile onset0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0003593HP:0003593Infantile onset0PSAT1 CL E G H29968610992Phosphoserine aminotransferase deficiency610992C1970253OMIM144319129610936
HP:0003593HP:0003593Infantile onset0PSPH CL E G H5723614023Deficiency of phosphoserine phosphatase614023C1291463OMIM11609577172480
HP:0003593HP:0003593Infantile onset0PTPRQ CL E G H374462613391Deafness, autosomal recessive 84613391C3150654OMIM13619679603317
HP:0003593HP:0003593Infantile onset0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12149689612719
HP:0003593HP:0003593Infantile onset0PUS3 CL E G H83480617051Mental retardation, autosomal recessive 55617051C4310745OMIM121825461616283
HP:0003593HP:0003593Infantile onset0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0003593HP:0003593Infantile onset0RAB27A CL E G H5873607624Griscelli syndrome type 2607624C1868679OMIM12609766603868
HP:0003593HP:0003593Infantile onset0RAG1 CL E G H5896233650Combined cellular and humoral immune defects with granulomas233650C2673536OMIM15219831179615
HP:0003593HP:0003593Infantile onset0RAG2 CL E G H5897233650Combined cellular and humoral immune defects with granulomas233650C2673536OMIM13629832179616
HP:0003593HP:0003593Infantile onset0RASGRP2 CL E G H10235615888Platelet-type bleeding disorder 18615888C4014584OMIM1889879605577
HP:0003593HP:0003593Infantile onset0RDX CL E G H5962611022Deafness, autosomal recessive 24611022C1970239OMIM12269944179410
HP:0003593HP:0003593Infantile onset0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM13439965605226
HP:0003593HP:0003593Infantile onset0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM145325964613114
HP:0003593HP:0003593Infantile onset0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM139930220611908
HP:0003593HP:0003593Infantile onset0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM131418518606034
HP:0003593HP:0003593Infantile onset0ROR1 CL E G H4919617654DEAFNESS, AUTOSOMAL RECESSIVE 108617654C4539997OMIM18710256602336
HP:0003593HP:0003593Infantile onset0RORC CL E G H6097616622Immunodeficiency 42616622C4225266OMIM118810260602943
HP:0003593HP:0003593Infantile onset0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1113529168610937
HP:0003593HP:0003593Infantile onset0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM113410345180468
HP:0003593HP:0003593Infantile onset0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM117210402603474
HP:0003593HP:0003593Infantile onset0RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM110710414603701
HP:0003593HP:0003593Infantile onset0RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM11810418603685
HP:0003593HP:0003593Infantile onset0RPSA CL E G H3921271400Asplenia, isolated congenital271400C0685889OMIM1596502150370
HP:0003593HP:0003593Infantile onset0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM158423625611053
HP:0003593HP:0003593Infantile onset0RYR1 CL E G H6261117000117000117000OMIM1506210483180901
HP:0003593HP:0003593Infantile onset0S1PR2 CL E G H9294610419Deafness, autosomal recessive 68610419C1835854OMIM1693169605111
HP:0003593HP:0003593Infantile onset0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1250610519604490
HP:0003593HP:0003593Infantile onset0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM110210535607690
HP:0003593HP:0003593Infantile onset0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM119017697612804
HP:0003593HP:0003593Infantile onset0SASH1 CL E G H23328127500Dyschromatosis universalis hereditaria 1127500C2675711OMIM19819182607955
HP:0003593HP:0003593Infantile onset0SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1346410585182389
HP:0003593HP:0003593Infantile onset0SCN2A CL E G H6326613721Early infantile epileptic encephalopathy 11613721C3150987OMIM1191410588182390
HP:0003593HP:0003593Infantile onset0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM1109610590182391
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM1139110591603967
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1139110591603967
HP:0003593HP:0003593Infantile onset0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1139110591603967
HP:0003593HP:0003593Infantile onset0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1190710597603415
HP:0003593HP:0003593Infantile onset0SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0003593HP:0003593Infantile onset0SCNN1A CL E G H6337264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM121910599600228
HP:0003593HP:0003593Infantile onset0SCNN1B CL E G H6338264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM121610600600760
HP:0003593HP:0003593Infantile onset0SCNN1G CL E G H6340264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM117210602600761
HP:0003593HP:0003593Infantile onset0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0003593HP:0003593Infantile onset0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1218610680600857
HP:0003593HP:0003593Infantile onset0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM16033867612848
HP:0003593HP:0003593Infantile onset0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM160710683602690
HP:0003593HP:0003593Infantile onset0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0003593HP:0003593Infantile onset0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM139030605613009
HP:0003593HP:0003593Infantile onset0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM117410801178640
HP:0003593HP:0003593Infantile onset0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM122924624608005
HP:0003593HP:0003593Infantile onset0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM118010906601295
HP:0003593HP:0003593Infantile onset0SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM160313818606726
HP:0003593HP:0003593Infantile onset0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM112410935193001
HP:0003593HP:0003593Infantile onset0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM134810982603667
HP:0003593HP:0003593Infantile onset0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM110820661611037
HP:0003593HP:0003593Infantile onset0SLC25A38 CL E G H54977205950Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive205950C2673914OMIM116226054610819
HP:0003593HP:0003593Infantile onset0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM182711005138140
HP:0003593HP:0003593Infantile onset0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM182711005138140
HP:0003593HP:0003593Infantile onset0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM114595603690
HP:0003593HP:0003593Infantile onset0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM138920305609826
HP:0003593HP:0003593Infantile onset0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM110811021605634
HP:0003593HP:0003593Infantile onset0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM136911022314375
HP:0003593HP:0003593Infantile onset0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM159917129607059
HP:0003593HP:0003593Infantile onset0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM126530521611672
HP:0003593HP:0003593Infantile onset0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0003593HP:0003593Infantile onset0SLC6A5 CL E G H9152614618Hyperekplexia 3614618C3553288OMIM153211051604159
HP:0003593HP:0003593Infantile onset0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM190311055300036
HP:0003593HP:0003593Infantile onset0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM152811065603593
HP:0003593HP:0003593Infantile onset0SLURP1 CL E G H57152248300Acroerythrokeratoderma248300C0025221OMIM18918746606119
HP:0003593HP:0003593Infantile onset0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0003593HP:0003593Infantile onset0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM159911133604202
HP:0003593HP:0003593Infantile onset0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0003593HP:0003593Infantile onset0SOST CL E G H50964122860Craniodiaphyseal dysplasia, autosomal dominant122860C2675746OMIM18513771605740
HP:0003593HP:0003593Infantile onset0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM123029022614140
HP:0003593HP:0003593Infantile onset0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0003593HP:0003593Infantile onset0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM116011257182125
HP:0003593HP:0003593Infantile onset0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1180711273182810
HP:0003593HP:0003593Infantile onset0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM171611276604985
HP:0003593HP:0003593Infantile onset0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM119625812611715
HP:0003593HP:0003593Infantile onset0STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM150511364102582
HP:0003593HP:0003593Infantile onset0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0003593HP:0003593Infantile onset0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM121911449611224
HP:0003593HP:0003593Infantile onset0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0003593HP:0003593Infantile onset0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM15011509185605
HP:0003593HP:0003593Infantile onset0TBC1D24 CL E G H57465605021Myoclonic epilepsy, familial infantile605021C0917800OMIM179529203613577
HP:0003593HP:0003593Infantile onset0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0003593HP:0003593Infantile onset0TBX19 CL E G H9095201400Adrenocorticotropic hormone deficiency201400C0342388OMIM113011596604614
HP:0003593HP:0003593Infantile onset0TCF3 CL E G H6929616941Agammaglobulinemia 8, autosomal dominant616941C4310786OMIM147611633147141
HP:0003593HP:0003593Infantile onset0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM145325774613846
HP:0003593HP:0003593Infantile onset0TGM3 CL E G H7053617251Uncombable hair syndrome 2617251C4310649OMIM13511779600238
HP:0003593HP:0003593Infantile onset0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM179411782191290
HP:0003593HP:0003593Infantile onset0TIMMDC1 CL E G H51300618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31618251OMIM1561321615534
HP:0003593HP:0003593Infantile onset0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0003593HP:0003593Infantile onset0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM112211842608439
HP:0003593HP:0003593Infantile onset0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM167428396609884
HP:0003593HP:0003593Infantile onset0TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM110826899617218
HP:0003593HP:0003593Infantile onset0TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0003593HP:0003593Infantile onset0TRAC CL E G H28755615387T-cell receptor alpha/beta deficiency615387C3809332OMIM11212029186880
HP:0003593HP:0003593Infantile onset0TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM158630832611966
HP:0003593HP:0003593Infantile onset0TRIOBP CL E G H11078609823Deafness, autosomal recessive 28609823C1853276OMIM165517009609761
HP:0003593HP:0003593Infantile onset0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM17620286617840
HP:0003593HP:0003593Infantile onset0TRMT1 CL E G H55621618302618302618302OMIM17225980611669
HP:0003593HP:0003593Infantile onset0TRPA1 CL E G H8989615040Familial episodic pain syndrome 1615040C3808667OMIM170497604775
HP:0003593HP:0003593Infantile onset0TRPM6 CL E G H140803602014Hypomagnesemia 1, intestinal602014C1865974OMIM139617995607009
HP:0003593HP:0003593Infantile onset0TSC1 CL E G H7248607341Focal cortical dysplasia type II607341C1846385OMIM1369012362605284
HP:0003593HP:0003593Infantile onset0TSC2 CL E G H7249607341Focal cortical dysplasia type II607341C1846385OMIM1849512363191092
HP:0003593HP:0003593Infantile onset0TSHR CL E G H7253275200Hypothyroidism, congenital, nongoitrous, 1275200C3493776OMIM120612373603372
HP:0003593HP:0003593Infantile onset0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM111026262614426
HP:0003593HP:0003593Infantile onset0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM12285912403188840
HP:0003593HP:0003593Infantile onset0TUBB6 CL E G H84617617732FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION617732C4540277OMIM111920776615103
HP:0003593HP:0003593Infantile onset0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM127312420602389
HP:0003593HP:0003593Infantile onset0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM15017772609063
HP:0003593HP:0003593Infantile onset0UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM121316297606673
HP:0003593HP:0003593Infantile onset0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14921237614461
HP:0003593HP:0003593Infantile onset0UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM116029304614632
HP:0003593HP:0003593Infantile onset0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM112651192150
HP:0003593HP:0003593Infantile onset0VARS2 CL E G H57176615917Combined oxidative phosphorylation deficiency 20615917C4014660OMIM129521642612802
HP:0003593HP:0003593Infantile onset0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM126912679601769
HP:0003593HP:0003593Infantile onset0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0003593HP:0003593Infantile onset0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM133914579610035
HP:0003593HP:0003593Infantile onset0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
HP:0003593HP:0003593Infantile onset0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM121317327615049
HP:0003593HP:0003593Infantile onset0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM112521208617424
HP:0003593HP:0003593Infantile onset0WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM16125072609226
HP:0003593HP:0003593Infantile onset0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113825928616144
HP:0003593HP:0003593Infantile onset0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0003593HP:0003593Infantile onset0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1144814540605232
HP:0003593HP:0003593Infantile onset0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19612843607472
HP:0003593HP:0003593Infantile onset0YWHAG CL E G H7532617665EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56617665C4540034OMIM112812852605356
HP:0003593HP:0003593Infantile onset0ZAP70 CL E G H7535617006Autoimmune disease, multisystem, infantile-onset, 2617006C4310768OMIM134512858176947
HP:0003593HP:0003593Infantile onset0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM146629316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003593HP:0003593Infantile onset0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM014821686612944
HP:0003593HP:0003593Infantile onset0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM071611276604985


Genes (411) :AASS ABCB11 ABCB4 ABCD3 ACADSB ACO2 ACOX1 ACOX2 ADAM22 ADAR ADAT3 ADD3 ADGRV1 ADK ADNP ADSL AFG3L2 AGK AIFM1 AIMP2 AKT1 ALDH5A1 ALG11 ALG13 ALS2 AMMECR1 AP1S2 AP3D1 ARFGEF2 ARV1 ASH1L ASXL2 ATAD3A ATP6AP2 ATP8B1 ATPAF2 AUH BCL10 BCS1L BLNK BOLA3 BRF1 C12ORF57 C12orf57 CA12 CAD CARD11 CAVIN1 CC2D2A CCDC115 CCT5 CD247 CD3D CD3E CD59 CD79B CDKL5 CEP104 CHD1 CHD3 CHRNA1 CHRND CHRNE CLIC5 CLPX COG2 COL6A1 COL6A2 COL6A3 COLQ COQ6 CORO1A COX10 COX15 COX4I2 CPT2 CTC1 CTDP1 CTNNB1 CUX2 CWF19L1 CXCR4 CYB5A CYP2R1 DAG1 DARS DCDC2 DCX DDC DDOST DDX3X DEAF1 DHX30 DLAT DNAAF4 DNAAF5 DOCK7 DOCK8 DPM1 EARS2 EBF3 EDC3 EEF1A2 EGR2 EIF2AK3 ELANE EPO ERCC4 ERCC6 ERCC8 EXT2 FAM126A FERMT3 FGD4 FKTN FLNA FMN2 FOXRED1 FRMD7 FRMPD4 FZD4 GABRB1 GABRB3 GAD1 GATA1 GATAD2B GATM GCH1 GDAP1 GEMIN4 GFAP GFI1B GFPT1 GJA1 GJB2 GJB3 GJC2 GLRA1 GLRB GNAS GNB1 GP6 GPAA1 GPD1 GPHN GRID2 GRIK2 GRIN1 GRIN2D GRM1 GTPBP2 HAX1 HCFC1 HEPACAM HERC2 HEXA HIBCH HIKESHI HIVEP2 HNF1A HNMT HNRNPU HSD17B10 HSD17B4 HYDIN IFT140 IGHM IGLL1 IKBKB IL21 ILDR1 IMPDH1 ISCA1 ITGA7 ITPA JAG1 JPH1 KATNB1 KCNA2 KCNB1 KCNH1 KCNJ10 KCNMA1 KCNQ2 KCNT2 KDM5B KIDINS220 KIF1A KITLG KLHL7 KRT81 KRT83 KRT86 L2HGDH LAMA3 LARGE1 LCK LIPT1 LMAN2L LMBRD1 LRP5 LRPPRC MAGEL2 MAST1 MCOLN1 MED13L METTL23 MFF MFN2 MIPEP MLC1 MMAA MMACHC MMADHC MMP2 MPV17 MPZ MRPL44 MRPS2 MRPS7 MTFMT MTOR MTR MTRR MUSK MYH7 MYMK MYO5A NAGA NDUFA10 NDUFA13 NDUFAF1 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS4 NDUFV1 NDUFV2 NEB NFE2L2 NFKBIA NGF NKX6-2 NLRP12 NLRP3 NR3C2 NTRK1 OPHN1 PAK1 PARN PAX2 PCDH12 PCDH15 PCDH19 PCK1 PDE10A PDHA1 PDP1 PGAP3 PHIP PHKG2 PIGT PIK3R1 PINK1 PLA2G6 PLCG2 PLEKHG2 PLG PLP1 PMP22 PMPCA PNKD PNPLA8 POLG POMC POMK POMT1 POMT2 PRDX1 PRKCD PRKDC PRMT7 PRX PSAP PSAT1 PSPH PTPRQ PTS PUS3 QDPR RAB27A RAG1 RAG2 RASGRP2 RDX RERE RETREG1 RFT1 RNASEH2A RNASET2 ROR1 RORC RPGRIP1L RPL35A RPS19 RPS26 RPS28 RPSA RUSC2 RYR1 S1PR2 SACS SAR1B SARS2 SASH1 SCN1A SCN2A SCN3A SCN4A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHAF1 SDHD SELENON SEPSECS SFTPB SIL1 SLC10A2 SLC12A5 SLC18A2 SLC25A12 SLC25A26 SLC25A38 SLC2A1 SLC33A1 SLC34A3 SLC35A1 SLC35A2 SLC39A4 SLC46A1 SLC6A3 SLC6A5 SLC6A8 SLC7A7 SLURP1 SMPD1 SNAP29 SNX14 SOST SPECC1L SPEG SPR SPTAN1 SPTBN2 SRD5A3 STAT3 SUCLA2 SUCLG1 SURF1 SYT1 TBC1D24 TBCE TBX19 TCF3 TCTN2 TGM3 TH TIMMDC1 TK2 TLK2 TMEM67 TMTC3 TNNT1 TRAC TRAPPC9 TRIOBP TRIT1 TRMT1 TRPA1 TRPM6 TSC1 TSC2 TSHR TTI2 TTN TUBB6 TUFM TXN2 UPB1 UQCC2 UVSSA VARS VARS2 VDR VPS33A VPS45 VPS53 WAC WDR26 WDR45B WDR73 WDR81 WNK1 YME1L1 YWHAG ZAP70 ZSWIM6

Diseases (399) :238700 601847 602347 616278 610006 614559 264470 617308 617933 127400 615286 617008 604352 614300 615873 103050 614487 212350 300816 618006 176920 271980 613661 300884 607225 300990 304340 617050 608097 617020 617796 617190 617183 300423 211600 604273 250950 616098 256000 124000 613502 614299 616202 218340 143860 616457 615206 613327 216360 616828 256840 610163 615617 615615 612300 612692 300672 616781 617682 618205 608930 616321 616322 616324 608931 616042 618015 617395 254090 603034 614650 615401 612714 600649 612199 604168 615075 618141 616127 193670 250790 600081 616538 615281 617394 300067 608643 614507 300958 617171 617804 245348 615482 614874 615859 243700 608799 614924 617330 616460 616409 616393 145900 226980 202700 617911 615272 600630 614621 616682 610532 612840 609311 613152 253800 611588 300048 616193 618241 310700 300983 133780 617153 617113 603513 300835 300367 615074 612718 233910 607831 214400 617913 203450 187900 104100 602540 133200 608804 149400 614619 166350 616973 614201 617810 614480 616204 611092 614254 617162 614831 617988 610738 309541 604004 615516 272800 250620 616881 616977 600496 616739 617391 300438 261515 608647 266920 601495 613500 615592 615767 609646 180105 617613 613204 616647 118450 616212 616366 616056 611816 612780 617643 613720 617771 618109 617296 201300 145250 617055 158000 236792 245660 608840 615758 616299 616887 277380 601813 220111 615547 618273 252650 616789 615942 617086 601152 617228 251100 277400 277410 259600 256810 615395 617950 617872 618248 607341 250940 236270 616325 160500 254940 214450 609241 618243 618249 618234 618252 618245 618226 618228 252010 618225 618229 256030 617744 612132 608654 617560 611762 191900 120100 177735 256800 300486 618158 616353 120330 251280 609533 300088 261680 616921 312170 608782 615716 617991 613027 615398 615214 605909 256600 614878 616763 217090 312080 213200 118800 251950 613662 203700 609734 616094 613155 609308 613158 615559 615966 617157 611722 610992 614023 613391 261640 617051 261630 607624 233650 615888 611022 616975 612015 610333 612951 617654 616622 612528 105650 613309 606164 271400 617773 117000 610419 270550 246700 613845 127500 607208 613721 617938 614198 170500 168300 243000 264350 252011 602771 613811 265120 248800 613291 616645 618049 612949 616794 205950 606777 608885 614482 241530 603585 300896 201100 229050 613135 614618 300352 222700 248300 257200 609528 616354 122860 145410 615959 612716 613477 600224 615386 612379 147060 612073 245400 618218 605021 617207 201400 616941 616654 617251 605407 618251 609560 618050 617255 605355 615387 613192 609823 617873 618302 615040 602014 275200 615541 611705 617732 610678 616811 613161 615824 614640 617802 615917 277440 617303 615285 615851 616708 617616 617977 251300 610185 617302 617665 617006 617865
 

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