Human Phenotype Ontology 
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Clinical modifier (HP:0012823)help
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Phenotypic variability (HP:0003812)help
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Variable expressivity (HP:0003828)help
Term ID: 3828
Name: Variable expressivity
Synonym: Highly variable severity; Variable severity
Definition: A variable severity of phenotypic features.
Comments:
Reference: HP:0003828
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003828HP:0003828Variable expressivity0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM12120601065
HP:0003828HP:0003828Variable expressivity0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217272129102610
HP:0003828HP:0003828Variable expressivity0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1217272129102610
HP:0003828HP:0003828Variable expressivity0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM13475166604638
HP:0003828HP:0003828Variable expressivity0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1552161839607575
HP:0003828HP:0003828Variable expressivity0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1847245601568
HP:0003828HP:0003828Variable expressivity0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140266315604581
HP:0003828HP:0003828Variable expressivity0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0003828HP:0003828Variable expressivity0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM118942329103320
HP:0003828HP:0003828Variable expressivity0ALAS2 CL E G H212300751Hereditary sideroblastic anemia300751C0221018OMIM1103227397301300
HP:0003828HP:0003828Variable expressivity0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0003828HP:0003828Variable expressivity0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM112262527337608662
HP:0003828HP:0003828Variable expressivity0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM112262527337608662
HP:0003828HP:0003828Variable expressivity0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM14820421732608041
HP:0003828HP:0003828Variable expressivity0APC CL E G H324175100Familial adenomatous polyposis 1175100C2713442OMIM119517734583611731
HP:0003828HP:0003828Variable expressivity0ARL6 CL E G H84100600151Bardet-Biedl syndrome 3600151C1859564OMIM1217913210608845
HP:0003828HP:0003828Variable expressivity0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0003828HP:0003828Variable expressivity0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0003828HP:0003828Variable expressivity0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0003828HP:0003828Variable expressivity0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM1622618305300556
HP:0003828HP:0003828Variable expressivity0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0003828HP:0003828Variable expressivity0B2M CL E G H567241600Hypoproteinemia, hypercatabolic241600C1855796OMIM1424914109700
HP:0003828HP:0003828Variable expressivity0BBS9 CL E G H27241615986Bardet-Biedl syndrome 9615986C1859567OMIM15329230000607968
HP:0003828HP:0003828Variable expressivity0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM1371741020603647
HP:0003828HP:0003828Variable expressivity0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM13532317208609797
HP:0003828HP:0003828Variable expressivity0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0003828HP:0003828Variable expressivity0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM11111426784613541
HP:0003828HP:0003828Variable expressivity0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM13820625443614297
HP:0003828HP:0003828Variable expressivity0CA5A CL E G H763615751Carbonic anhydrase VA deficiency, hyperammonemia due to615751C3810404OMIM171021377114761
HP:0003828HP:0003828Variable expressivity0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0003828HP:0003828Variable expressivity0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM113621527601047
HP:0003828HP:0003828Variable expressivity0CD164 CL E G H8763616969Deafness, autosomal dominant 66616969C4283893OMIM11311632603356
HP:0003828HP:0003828Variable expressivity0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0003828HP:0003828Variable expressivity0CD3E CL E G H916615615Immunodeficiency 18615615C3810127OMIM17961674186830
HP:0003828HP:0003828Variable expressivity0CD3G CL E G H917615607Immunodeficiency 17615607C3810107OMIM14851675186740
HP:0003828HP:0003828Variable expressivity0CD70 CL E G H970618261618261618261OMIM141411937602840
HP:0003828HP:0003828Variable expressivity0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM11339117104608707
HP:0003828HP:0003828Variable expressivity0CFAP53 CL E G H220136614779Heterotaxy, visceral, 6, autosomal614779C3553676OMIM147726530614759
HP:0003828HP:0003828Variable expressivity0CFD CL E G H1675613912Complement factor d deficiency613912C0398764OMIM13572771134350
HP:0003828HP:0003828Variable expressivity0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0003828HP:0003828Variable expressivity0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0003828HP:0003828Variable expressivity0CIC CL E G H23152617600MENTAL RETARDATION, AUTOSOMAL DOMINANT 45617600C4539848OMIM11013214214612082
HP:0003828HP:0003828Variable expressivity0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0003828HP:0003828Variable expressivity0CLCN2 CL E G H1181605635Hyperaldosteronism, familial, type II605635C1854107OMIM1441322020600570
HP:0003828HP:0003828Variable expressivity0CLPX CL E G H10845618015PROTOPORPHYRIA, ERYTHROPOIETIC, 2618015CN248523OMIM13152088615611
HP:0003828HP:0003828Variable expressivity0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM114622092118955
HP:0003828HP:0003828Variable expressivity0CNKSR2 CL E G H22866301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE301008C4538788OMIM1621419701300724
HP:0003828HP:0003828Variable expressivity0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11144982202120130
HP:0003828HP:0003828Variable expressivity0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM1144062203120090
HP:0003828HP:0003828Variable expressivity0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113710072211120220
HP:0003828HP:0003828Variable expressivity0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113710072211120220
HP:0003828HP:0003828Variable expressivity0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119111482212120240
HP:0003828HP:0003828Variable expressivity0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119111482212120240
HP:0003828HP:0003828Variable expressivity0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114316342213120250
HP:0003828HP:0003828Variable expressivity0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114316342213120250
HP:0003828HP:0003828Variable expressivity0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14330616812606980
HP:0003828HP:0003828Variable expressivity0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0003828HP:0003828Variable expressivity0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12725726193611654
HP:0003828HP:0003828Variable expressivity0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM1198520582610670
HP:0003828HP:0003828Variable expressivity0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0003828HP:0003828Variable expressivity0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16516325538610956
HP:0003828HP:0003828Variable expressivity0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM1812220603608172
HP:0003828HP:0003828Variable expressivity0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM192032861126060
HP:0003828HP:0003828Variable expressivity0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1232022898238331
HP:0003828HP:0003828Variable expressivity0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1201972973603850
HP:0003828HP:0003828Variable expressivity0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0003828HP:0003828Variable expressivity0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0003828HP:0003828Variable expressivity0DZIP1L CL E G H199221617610POLYCYSTIC KIDNEY DISEASE 5617610C4539903OMIM153426551617570
HP:0003828HP:0003828Variable expressivity0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0003828HP:0003828Variable expressivity0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM1241973239129010
HP:0003828HP:0003828Variable expressivity0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241973239129010
HP:0003828HP:0003828Variable expressivity0EHHADH CL E G H1962615605Fanconi renotubular syndrome 3615605C3810100OMIM111553247607037
HP:0003828HP:0003828Variable expressivity0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0003828HP:0003828Variable expressivity0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0003828HP:0003828Variable expressivity0EPHB4 CL E G H2050617300Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to617300C4310629OMIM152913395600011
HP:0003828HP:0003828Variable expressivity0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0003828HP:0003828Variable expressivity0ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM1592633437133530
HP:0003828HP:0003828Variable expressivity0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0003828HP:0003828Variable expressivity0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0003828HP:0003828Variable expressivity0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM12212903519601653
HP:0003828HP:0003828Variable expressivity0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12212903519601653
HP:0003828HP:0003828Variable expressivity0F10 CL E G H2159227600Factor X deficiency227600C0015519OMIM11551863528613872
HP:0003828HP:0003828Variable expressivity0F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM170953535176930
HP:0003828HP:0003828Variable expressivity0F7 CL E G H2155227500Factor VII deficiency227500C0015503OMIM13322563544613878
HP:0003828HP:0003828Variable expressivity0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM11219124587610531
HP:0003828HP:0003828Variable expressivity0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0003828HP:0003828Variable expressivity0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0003828HP:0003828Variable expressivity0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM1519528844608533
HP:0003828HP:0003828Variable expressivity0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM110743668601513
HP:0003828HP:0003828Variable expressivity0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0003828HP:0003828Variable expressivity0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM17142516873609390
HP:0003828HP:0003828Variable expressivity0FIG4 CL E G H9896612691Polymicrogyria, bilateral temporooccipital612691C2675191OMIM17142516873609390
HP:0003828HP:0003828Variable expressivity0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114140217997606596
HP:0003828HP:0003828Variable expressivity0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM114140217997606596
HP:0003828HP:0003828Variable expressivity0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM1594503622607440
HP:0003828HP:0003828Variable expressivity0FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM11082566106300292
HP:0003828HP:0003828Variable expressivity0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM1162124082600232
HP:0003828HP:0003828Variable expressivity0GABRG2 CL E G H2566611277Familial febrile seizures 8611277C1969810OMIM1473284087137164
HP:0003828HP:0003828Variable expressivity0GANAB CL E G H23193600666Polycystic kidney disease 3600666C1418603OMIM116514138104160
HP:0003828HP:0003828Variable expressivity0GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM1152354170305371
HP:0003828HP:0003828Variable expressivity0GATA1 CL E G H2623300367GATA-1-related thrombocytopenia with dyserythropoiesis300367C1845837OMIM1152354170305371
HP:0003828HP:0003828Variable expressivity0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0003828HP:0003828Variable expressivity0GDF6 CL E G H392255118100Klippel-Feil syndrome 1, autosomal dominant118100C1861689OMIM1211654221601147
HP:0003828HP:0003828Variable expressivity0GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM112614238604383
HP:0003828HP:0003828Variable expressivity0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0003828HP:0003828Variable expressivity0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1341574288604418
HP:0003828HP:0003828Variable expressivity0GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM1883724318165230
HP:0003828HP:0003828Variable expressivity0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0003828HP:0003828Variable expressivity0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM12445374319165240
HP:0003828HP:0003828Variable expressivity0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM12445374319165240
HP:0003828HP:0003828Variable expressivity0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM1121264367613109
HP:0003828HP:0003828Variable expressivity0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM14915122932615320
HP:0003828HP:0003828Variable expressivity0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM14915122932615320
HP:0003828HP:0003828Variable expressivity0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM12792164392139320
HP:0003828HP:0003828Variable expressivity0GP6 CL E G H51206614201Platelet-type bleeding disorder 11614201C3280120OMIM167814388605546
HP:0003828HP:0003828Variable expressivity0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM111774446603048
HP:0003828HP:0003828Variable expressivity0GRHPR CL E G H9380260000Primary hyperoxaluria, type II260000C0268165OMIM1402174570604296
HP:0003828HP:0003828Variable expressivity0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM15334574138246
HP:0003828HP:0003828Variable expressivity0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM11079654585138253
HP:0003828HP:0003828Variable expressivity0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM11076294586138252
HP:0003828HP:0003828Variable expressivity0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM11076294586138252
HP:0003828HP:0003828Variable expressivity0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0003828HP:0003828Variable expressivity0GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM1159814880608536
HP:0003828HP:0003828Variable expressivity0GUCY1A1 CL E G H2982615750Moyamoya disease 6 with achalasia615750C3810403OMIM119614685139396
HP:0003828HP:0003828Variable expressivity0GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM116694699603942
HP:0003828HP:0003828Variable expressivity0HARS CL E G H3035616625Charcot-Marie-Tooth disease, axonal, type 2w616625C4225265OMIM1134816142810
HP:0003828HP:0003828Variable expressivity0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0003828HP:0003828Variable expressivity0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0003828HP:0003828Variable expressivity0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM149625209614232
HP:0003828HP:0003828Variable expressivity0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM1155330600709
HP:0003828HP:0003828Variable expressivity0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0003828HP:0003828Variable expressivity0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM12828618873606951
HP:0003828HP:0003828Variable expressivity0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0003828HP:0003828Variable expressivity0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM1483256218176260
HP:0003828HP:0003828Variable expressivity0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM1113856284600150
HP:0003828HP:0003828Variable expressivity0KCNQ5 CL E G H56479617601MENTAL RETARDATION, AUTOSOMAL DOMINANT 46617601C4539851OMIM16416299607357
HP:0003828HP:0003828Variable expressivity0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0003828HP:0003828Variable expressivity0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM1431059888601255
HP:0003828HP:0003828Variable expressivity0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0003828HP:0003828Variable expressivity0KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM199816905607701
HP:0003828HP:0003828Variable expressivity0KRT14 CL E G H3861601001Epidermolysis bullosa simplex, autosomal recessive601001C1832926OMIM11181356416148066
HP:0003828HP:0003828Variable expressivity0KRT5 CL E G H3852601001Epidermolysis bullosa simplex, autosomal recessive601001C1832926OMIM11552236442148040
HP:0003828HP:0003828Variable expressivity0KRT81 CL E G H3887158000Beaded hair158000C0546966OMIM15146458602153
HP:0003828HP:0003828Variable expressivity0KRT83 CL E G H3889158000Beaded hair158000C0546966OMIM14976460602765
HP:0003828HP:0003828Variable expressivity0KRT86 CL E G H3892158000Beaded hair158000C0546966OMIM112296463601928
HP:0003828HP:0003828Variable expressivity0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM1433496481150320
HP:0003828HP:0003828Variable expressivity0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM138014996482156225
HP:0003828HP:0003828Variable expressivity0LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM1102146486150240
HP:0003828HP:0003828Variable expressivity0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM157411526636150330
HP:0003828HP:0003828Variable expressivity0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM157411526636150330
HP:0003828HP:0003828Variable expressivity0MAPKBP1 CL E G H23005617271Nephronophthisis 20617271C4310640OMIM175329536616786
HP:0003828HP:0003828Variable expressivity0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0003828HP:0003828Variable expressivity0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM1161936912164015
HP:0003828HP:0003828Variable expressivity0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0003828HP:0003828Variable expressivity0MCM2 CL E G H4171616968Deafness, autosomal dominant 70616968C4310775OMIM11496944116945
HP:0003828HP:0003828Variable expressivity0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM163219691608205
HP:0003828HP:0003828Variable expressivity0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM11949529634612453
HP:0003828HP:0003828Variable expressivity0METTL23 CL E G H124512615942Mental retardation, autosomal recessive 44615942C4014745OMIM154026988615262
HP:0003828HP:0003828Variable expressivity0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM123168016877608507
HP:0003828HP:0003828Variable expressivity0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM123168016877608507
HP:0003828HP:0003828Variable expressivity0MITF CL E G H4286193510Waardenburg syndrome type 2A193510C1860339OMIM1612407105156845
HP:0003828HP:0003828Variable expressivity0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM126521606614738
HP:0003828HP:0003828Variable expressivity0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0003828HP:0003828Variable expressivity0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM12464447225159440
HP:0003828HP:0003828Variable expressivity0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM12464447225159440
HP:0003828HP:0003828Variable expressivity0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12464447225159440
HP:0003828HP:0003828Variable expressivity0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM15711047230600814
HP:0003828HP:0003828Variable expressivity0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM126216650611849
HP:0003828HP:0003828Variable expressivity0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM114314499611974
HP:0003828HP:0003828Variable expressivity0MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0003828HP:0003828Variable expressivity0MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0003828HP:0003828Variable expressivity0MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0003828HP:0003828Variable expressivity0MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0003828HP:0003828Variable expressivity0MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0003828HP:0003828Variable expressivity0MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0003828HP:0003828Variable expressivity0MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0003828HP:0003828Variable expressivity0MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0003828HP:0003828Variable expressivity0MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0003828HP:0003828Variable expressivity0MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0003828HP:0003828Variable expressivity0MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0003828HP:0003828Variable expressivity0MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0003828HP:0003828Variable expressivity0MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0003828HP:0003828Variable expressivity0MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0003828HP:0003828Variable expressivity0MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0003828HP:0003828Variable expressivity0MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0003828HP:0003828Variable expressivity0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM1244337572160740
HP:0003828HP:0003828Variable expressivity0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100224407577160760
HP:0003828HP:0003828Variable expressivity0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM11618812399604103
HP:0003828HP:0003828Variable expressivity0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0003828HP:0003828Variable expressivity0NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM151777683300078
HP:0003828HP:0003828Variable expressivity0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM177018828606934
HP:0003828HP:0003828Variable expressivity0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11011328625612392
HP:0003828HP:0003828Variable expressivity0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM113667715602141
HP:0003828HP:0003828Variable expressivity0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM1251057737162230
HP:0003828HP:0003828Variable expressivity0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM1443767739162280
HP:0003828HP:0003828Variable expressivity0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM1443767739162280
HP:0003828HP:0003828Variable expressivity0NF2 CL E G H4771162091Schwannomatosis 1162091C4048809OMIM14377777773607379
HP:0003828HP:0003828Variable expressivity0NFKB1 CL E G H4790616576Immunodeficiency, common variable, 12616576C4225277OMIM136977794164011
HP:0003828HP:0003828Variable expressivity0NFKB2 CL E G H4791615577Common variable immunodeficiency 10615577C3809991OMIM1111657795164012
HP:0003828HP:0003828Variable expressivity0NIPA1 CL E G H123606600363Spastic paraplegia 6600363C1838192OMIM11748317043608145
HP:0003828HP:0003828Variable expressivity0NLRP3 CL E G H114548617772DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION617772C4521680OMIM114248816400606416
HP:0003828HP:0003828Variable expressivity0NPHS2 CL E G H7827600995Nephrotic syndrome, idiopathic, steroid-resistant600995CN034406OMIM121519013394604766
HP:0003828HP:0003828Variable expressivity0NRIP1 CL E G H8204618270618270618270OMIM19848001602490
HP:0003828HP:0003828Variable expressivity0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM11418820278613621
HP:0003828HP:0003828Variable expressivity0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM1124029914607617
HP:0003828HP:0003828Variable expressivity0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM11710125896610277
HP:0003828HP:0003828Variable expressivity0PAFAH1B1 CL E G H5048607432Lissencephaly 1607432C0431375OMIM11702558574601545
HP:0003828HP:0003828Variable expressivity0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0003828HP:0003828Variable expressivity0PARN CL E G H5073616353Dyskeratosis congenita, autosomal recessive 6616353C4225356OMIM1291668609604212
HP:0003828HP:0003828Variable expressivity0PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM198938616167409
HP:0003828HP:0003828Variable expressivity0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0003828HP:0003828Variable expressivity0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0003828HP:0003828Variable expressivity0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12218621350608769
HP:0003828HP:0003828Variable expressivity0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM1323478851602859
HP:0003828HP:0003828Variable expressivity0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1182089717170993
HP:0003828HP:0003828Variable expressivity0PFKM CL E G H5213232800Glycogen storage disease, type VII232800C0017926OMIM1271768877610681
HP:0003828HP:0003828Variable expressivity0PHACTR1 CL E G H221692618298618298618298OMIM124020990608723
HP:0003828HP:0003828Variable expressivity0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM1293208957311770
HP:0003828HP:0003828Variable expressivity0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM12148964600154
HP:0003828HP:0003828Variable expressivity0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0003828HP:0003828Variable expressivity0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM152014937610271
HP:0003828HP:0003828Variable expressivity0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0003828HP:0003828Variable expressivity0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0003828HP:0003828Variable expressivity0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM11653379118601097
HP:0003828HP:0003828Variable expressivity0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11653379118601097
HP:0003828HP:0003828Variable expressivity0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14927730802609059
HP:0003828HP:0003828Variable expressivity0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM130011969179174763
HP:0003828HP:0003828Variable expressivity0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM1141019180604983
HP:0003828HP:0003828Variable expressivity0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM1965089202607423
HP:0003828HP:0003828Variable expressivity0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM17550219743607439
HP:0003828HP:0003828Variable expressivity0PPCS CL E G H79717618189CARDIOMYOPATHY, DILATED, 2C618189OMIM141625686609853
HP:0003828HP:0003828Variable expressivity0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM1117013993616639
HP:0003828HP:0003828Variable expressivity0PROC CL E G H5624612304Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive612304C2676759OMIM13911779451612283
HP:0003828HP:0003828Variable expressivity0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM1322599462311850
HP:0003828HP:0003828Variable expressivity0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16269913797605725
HP:0003828HP:0003828Variable expressivity0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1272209498176801
HP:0003828HP:0003828Variable expressivity0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0003828HP:0003828Variable expressivity0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0003828HP:0003828Variable expressivity0PTPRO CL E G H5800614196Nephrotic syndrome, type 6614196C3280100OMIM111589678600579
HP:0003828HP:0003828Variable expressivity0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM1482289701600473
HP:0003828HP:0003828Variable expressivity0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM1671259752612676
HP:0003828HP:0003828Variable expressivity0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM1119870107820
HP:0003828HP:0003828Variable expressivity0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM13721621406611524
HP:0003828HP:0003828Variable expressivity0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11417815864610924
HP:0003828HP:0003828Variable expressivity0REEP1 CL E G H65055610250Spastic paraplegia 31, autosomal dominant610250C1853247OMIM16122725786609139
HP:0003828HP:0003828Variable expressivity0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM169318756607352
HP:0003828HP:0003828Variable expressivity0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1169721176614917
HP:0003828HP:0003828Variable expressivity0RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM14214925671610326
HP:0003828HP:0003828Variable expressivity0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM11324529478614574
HP:0003828HP:0003828Variable expressivity0RPS29 CL E G H6235615909Diamond-Blackfan anemia 13615909C4014641OMIM141510419603633
HP:0003828HP:0003828Variable expressivity0RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0003828HP:0003828Variable expressivity0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688309410483180901
HP:0003828HP:0003828Variable expressivity0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM119721349611170
HP:0003828HP:0003828Variable expressivity0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM15720015925606754
HP:0003828HP:0003828Variable expressivity0SCN1A CL E G H6323604403Generalized epilepsy with febrile seizures plus, type 2604403C1858673OMIM11611217210585182389
HP:0003828HP:0003828Variable expressivity0SCN2A CL E G H6326613721Early infantile epileptic encephalopathy 11613721C3150987OMIM1268105910588182390
HP:0003828HP:0003828Variable expressivity0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM112984810591603967
HP:0003828HP:0003828Variable expressivity0SCN9A CL E G H6335613863Generalized epilepsy with febrile seizures plus, type 7613863C2751777OMIM1129109210597603415
HP:0003828HP:0003828Variable expressivity0SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1129109210597603415
HP:0003828HP:0003828Variable expressivity0SCNN1A CL E G H6337618126LIDDLE SYNDROME 3618126CN253837OMIM14917110599600228
HP:0003828HP:0003828Variable expressivity0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16335415999606210
HP:0003828HP:0003828Variable expressivity0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15214021061614725
HP:0003828HP:0003828Variable expressivity0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM1216651445608465
HP:0003828HP:0003828Variable expressivity0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0003828HP:0003828Variable expressivity0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM148916088615564
HP:0003828HP:0003828Variable expressivity0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM110631610805600119
HP:0003828HP:0003828Variable expressivity0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1182910817603729
HP:0003828HP:0003828Variable expressivity0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122121010848600725
HP:0003828HP:0003828Variable expressivity0SHH CL E G H6469147250Single median maxillary incisor147250C1840235OMIM122121010848600725
HP:0003828HP:0003828Variable expressivity0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM12010210887601205
HP:0003828HP:0003828Variable expressivity0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1919010889603714
HP:0003828HP:0003828Variable expressivity0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM1916010906601295
HP:0003828HP:0003828Variable expressivity0SLC17A8 CL E G H246213605583Deafness, autosomal dominant 25605583C1854158OMIM1812520151607557
HP:0003828HP:0003828Variable expressivity0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM146620661611037
HP:0003828HP:0003828Variable expressivity0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11717425198610826
HP:0003828HP:0003828Variable expressivity0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1229225355611146
HP:0003828HP:0003828Variable expressivity0SLC3A1 CL E G H6519220100Cystinuria220100C0010691OMIM124121111025104614
HP:0003828HP:0003828Variable expressivity0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM12726030224607882
HP:0003828HP:0003828Variable expressivity0SLC5A2 CL E G H6524233100Familial renal glucosuria233100C0017980OMIM19110511037182381
HP:0003828HP:0003828Variable expressivity0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12016914025608761
HP:0003828HP:0003828Variable expressivity0SLC7A9 CL E G H11136220100Cystinuria220100C0010691OMIM115913111067604144
HP:0003828HP:0003828Variable expressivity0SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM17281823845613278
HP:0003828HP:0003828Variable expressivity0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM1405932952616663
HP:0003828HP:0003828Variable expressivity0SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM172757211233604277
HP:0003828HP:0003828Variable expressivity0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM137920373608181
HP:0003828HP:0003828Variable expressivity0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12510011257182125
HP:0003828HP:0003828Variable expressivity0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM14093211273182810
HP:0003828HP:0003828Variable expressivity0STAT2 CL E G H6773616636Immunodeficiency 44616636C4225260OMIM1711111363600556
HP:0003828HP:0003828Variable expressivity0STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM12524211386605921
HP:0003828HP:0003828Variable expressivity0STX1B CL E G H112755616172Generalized epilepsy with febrile seizures plus, type 9616172C4015395OMIM1912918539601485
HP:0003828HP:0003828Variable expressivity0STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM119553811444602926
HP:0003828HP:0003828Variable expressivity0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0003828HP:0003828Variable expressivity0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM112818911474185620
HP:0003828HP:0003828Variable expressivity0TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM142811546600774
HP:0003828HP:0003828Variable expressivity0TBC1D24 CL E G H57465605021Myoclonic epilepsy, familial infantile605021C0917800OMIM15656429203613577
HP:0003828HP:0003828Variable expressivity0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12317511581604649
HP:0003828HP:0003828Variable expressivity0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM1169628261616899
HP:0003828HP:0003828Variable expressivity0TENM4 CL E G H26011616736Tremor, hereditary essential, 5616736C4225223OMIM1197229945610084
HP:0003828HP:0003828Variable expressivity0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM17734511782191290
HP:0003828HP:0003828Variable expressivity0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM16020611831188250
HP:0003828HP:0003828Variable expressivity0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM135222407613413
HP:0003828HP:0003828Variable expressivity0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM117725382612988
HP:0003828HP:0003828Variable expressivity0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0003828HP:0003828Variable expressivity0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM12511911909602643
HP:0003828HP:0003828Variable expressivity0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14019912011190990
HP:0003828HP:0003828Variable expressivity0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM14019912011190990
HP:0003828HP:0003828Variable expressivity0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12822512012191030
HP:0003828HP:0003828Variable expressivity0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM162820286617840
HP:0003828HP:0003828Variable expressivity0TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM12624817341612907
HP:0003828HP:0003828Variable expressivity0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM18253918083605427
HP:0003828HP:0003828Variable expressivity0TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM133116791608756
HP:0003828HP:0003828Variable expressivity0TUBB2A CL E G H7280615763Cortical dysplasia, complex, with other brain malformations 5615763C3810407OMIM179412412615101
HP:0003828HP:0003828Variable expressivity0TUBB2B CL E G H347733610031Polymicrogyria, asymmetric610031C2750247OMIM13011430829612850
HP:0003828HP:0003828Variable expressivity0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0003828HP:0003828Variable expressivity0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0003828HP:0003828Variable expressivity0TUBB6 CL E G H84617617732FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION617732C4540277OMIM139920776615103
HP:0003828HP:0003828Variable expressivity0TUBG1 CL E G H7283615412Cortical dysplasia, complex, with other brain malformations 4615412C3809420OMIM185412417191135
HP:0003828HP:0003828Variable expressivity0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120911512428601622
HP:0003828HP:0003828Variable expressivity0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM166412642185880
HP:0003828HP:0003828Variable expressivity0VCP CL E G H7415616687Charcot-Marie-Tooth disease, axonal, type 2y616687C4225244OMIM16526012666601023
HP:0003828HP:0003828Variable expressivity0VEGFC CL E G H7424615907Lymphedema, hereditary, ID615907C4014628OMIM168212682601528
HP:0003828HP:0003828Variable expressivity0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM11910323595608877
HP:0003828HP:0003828Variable expressivity0VWF CL E G H7450613554von Willebrand disease type 2613554C1264040OMIM1102784012726613160
HP:0003828HP:0003828Variable expressivity0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1346921208617424
HP:0003828HP:0003828Variable expressivity0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM15059612799605131
HP:0003828HP:0003828Variable expressivity0ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (321) :AARS ACTA1 ACTN4 ADA2 ADD3 AFG3L2 AGK AGRN ALAS2 ALX4 ANO5 ANTXR2 APC ARL6 ASAH1 ATL1 ATP6AP1 ATP6AP2 ATP6V1A B2M BBS9 BCS1L BICD2 BRPF1 C12ORF65 C12orf65 C19ORF12 C19orf12 CA5A CANT1 CAV1 CD164 CD27 CD3E CD3G CD70 CDON CFAP53 CFD CHRNA1 CHRNE CIC CIT CLCN2 CLPX CLTC CNKSR2 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3 COQ8A COX1 COX2 COX3 CREBBP CSPP1 CYP2U1 CYTB DAG1 DARS2 DHDDS DHFR DLD DNM1L DPAGT1 DPM1 DZIP1L EBP EGR2 EHHADH EIF2S3 EP300 EPHB4 ERCC1 ERCC5 EXOSC2 EXOSC3 EYA1 F10 F2 F7 FAM126A FARS2 FBXO11 FBXO38 FGF12 FGFR2 FIG4 FKRP FKTN FOXP3 GABRB2 GABRG2 GANAB GATA1 GCH1 GDF6 GFI1B GFPT1 GJB6 GLI2 GLI3 GM2A GMPPB GNAS GP6 GPAA1 GRHPR GRIA4 GRIN2A GRIN2B GTPBP2 GTPBP3 GUCY1A1 GYG1 HARS HDAC8 HGSNAT HSD11B2 IARS IBA57 IFIH1 KANSL1 KCNA1 KCNMA1 KCNQ5 KIF11 KIF1A KIF5C KLHL41 KRT14 KRT5 KRT81 KRT83 KRT86 LAMA1 LAMA2 LAMB1 LMNA MAPKBP1 MARS MATR3 MBTPS2 MCM2 MECR MEGF10 METTL23 MFN2 MITF MPC1 MPDZ MPZ MRE11 MRPL44 MRPS7 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MYH2 MYH7 MYOT NAA10 ND1 ND5 ND6 NDUFA1 NDUFAF1 NDUFAF6 NDUFS8 NEFH NEFL NF2 NFKB1 NFKB2 NIPA1 NLRP3 NPHS2 NRIP1 NUBPL NUP107 ORAI1 PAFAH1B1 PAK3 PARN PAX2 PAX3 PBX1 PDHX PEX10 PEX2 PFKM PHACTR1 PIGA PIGH PIGN PIGS PITX2 PLAA PMP22 PNPLA2 POLG POLG2 POMT1 POMT2 PPCS PRDM8 PROC PRPS1 PRX PSAP PTCH1 PTCH2 PTPRO PURA QDPR RARS RARS2 RBCK1 REEP1 RHOBTB2 RMND1 RNASEH2B ROGDI RPS29 RTEL1 RYR1 SAMD9L SAMHD1 SCN1A SCN2A SCN4A SCN9A SCNN1A SELENON SERAC1 SETX SF3B4 SFXN4 SGCA SGPL1 SHH SIX1 SIX3 SLC10A2 SLC17A8 SLC25A26 SLC25A46 SLC30A10 SLC3A1 SLC52A2 SLC5A2 SLC5A7 SLC7A9 SLX4 SNORD118 SPAST SPG21 SPR SPTAN1 STAT2 STIM1 STX1B STXBP1 SUFU SURF1 TAF13 TBC1D24 TBCD TBCK TENM4 TH TK2 TMEM106B TMEM126A TMEM173 TNFRSF11B TPM2 TPM3 TRIT1 TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPV4 TSEN15 TUBB2A TUBB2B TUBB3 TUBB4A TUBB6 TUBG1 TWIST1 VAMP1 VCP VEGFC VPS13D VWF WDR26 WWOX ZBTB18

Diseases (289) :613287 255310 616852 603278 615688 617008 614487 212350 615120 300751 613451 611307 613319 228600 175100 600151 228000 182600 300972 300423 618012 241600 615986 262000 615290 617333 615035 615043 615751 251450 606721 616969 615122 615615 615607 618261 614226 614779 613912 608930 608931 617600 617090 605635 618015 617854 301008 175780 614483 158810 254090 612016 540000 180849 615636 615030 616538 611105 617836 613839 246900 614388 608093 608799 617610 302960 607678 145900 615605 300148 617300 610758 278780 617763 614678 602588 113650 227600 613679 227500 610532 614946 618089 615575 617166 101400 611228 612691 606612 607155 611588 304790 617829 611277 600666 300835 300367 233910 118100 187900 129500 615849 610829 175700 146510 272750 615351 615352 166350 614201 617810 260000 617864 245570 616139 613970 617988 616198 615750 616199 616625 300882 252930 218030 617093 615330 615846 610443 160120 617643 617601 152950 614255 615282 615731 601001 158000 615960 618138 615191 181350 613205 617271 615486 606070 308205 616968 617282 614399 615942 617087 609260 193510 614741 615219 118200 618184 604391 615395 617872 605637 182920 300855 301020 618234 618239 618222 616924 607684 607734 162091 616576 615577 600363 617772 600995 618270 618242 616730 615883 607432 300558 616353 616002 148820 617641 245349 614871 614867 232800 618298 300868 618010 614080 618143 180500 617527 118220 610717 613662 610131 609308 613158 618189 616640 612304 311070 249900 109400 614196 616158 261630 616140 611523 615895 610250 618004 614922 610181 226750 615909 615190 159550 612952 604403 613721 614198 613863 243000 618126 614739 606002 154400 615578 608099 617575 611638 147250 157170 613291 605583 616794 616505 613280 220100 614707 233100 617143 613951 614561 182601 248900 612716 613477 616636 612783 616172 612164 616684 617432 605021 617193 616900 616736 605407 609560 617964 612989 615934 239000 609285 617873 616084 600175 617026 615763 610031 614039 612438 617732 615412 108600 616687 615907 607317 613554 617616 616211 612337
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.