Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of movement (HP:0100022)help
..Starting node
..expand
Hyperactivity (HP:0000752)help
Term ID: 752
Name: Hyperactivity
Synonym: Hyperactive behavior; Hyperactive behaviour; More active than typical
Definition: Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
Comments:
Reference: HP:0000752
Genes and Diseases:
 
       Child Nodes:
........expandAttention deficit hyperactivity disorder (HP:0007018) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000752HP:0000752Hyperactivity0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0000752HP:0000752Hyperactivity0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0000752HP:0000752Hyperactivity0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0000752HP:0000752Hyperactivity0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0000752HP:0000752Hyperactivity0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000752HP:0000752Hyperactivity0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000752HP:0000752Hyperactivity0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000752HP:0000752Hyperactivity0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000752HP:0000752Hyperactivity0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13413776300806
HP:0000752HP:0000752Hyperactivity0AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13493776300806
HP:0000752HP:0000752Hyperactivity0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000752HP:0000752Hyperactivity0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000752HP:0000752Hyperactivity0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0000752HP:0000752Hyperactivity0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0000752HP:0000752Hyperactivity0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1364494600465
HP:0000752HP:0000752Hyperactivity0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1505494600465
HP:0000752HP:0000752Hyperactivity0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM117924036612034
HP:0000752HP:0000752Hyperactivity0APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM119424036612034
HP:0000752HP:0000752Hyperactivity0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1295663608313
HP:0000752HP:0000752Hyperactivity0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1234663608313
HP:0000752HP:0000752Hyperactivity0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM115619088607999
HP:0000752HP:0000752Hyperactivity0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM117319088607999
HP:0000752HP:0000752Hyperactivity0ATP1A1 CL E G H476618314618314618314OMIM186799182310
HP:0000752HP:0000752Hyperactivity0ATP1A1 CL E G H476618314618314618314OMIM1131799182310
HP:0000752HP:0000752Hyperactivity0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0000752HP:0000752Hyperactivity0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0000752HP:0000752Hyperactivity0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0000752HP:0000752Hyperactivity0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0000752HP:0000752Hyperactivity0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0000752HP:0000752Hyperactivity0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0000752HP:0000752Hyperactivity0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0000752HP:0000752Hyperactivity0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0000752HP:0000752Hyperactivity0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM116930237610055
HP:0000752HP:0000752Hyperactivity0CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM117530237610055
HP:0000752HP:0000752Hyperactivity0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0000752HP:0000752Hyperactivity0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0000752HP:0000752Hyperactivity0CHD2 CL E G H11062382ORPHA113261917602119
HP:0000752HP:0000752Hyperactivity0CHD2 CL E G H11062382ORPHA111631917602119
HP:0000752HP:0000752Hyperactivity0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000752HP:0000752Hyperactivity0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000752HP:0000752Hyperactivity0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM12602252605000
HP:0000752HP:0000752Hyperactivity0CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM13012252605000
HP:0000752HP:0000752Hyperactivity0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000752HP:0000752Hyperactivity0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000752HP:0000752Hyperactivity0CUL4B CL E G H845085293ORPHA13222555300304
HP:0000752HP:0000752Hyperactivity0CUL4B CL E G H845085293ORPHA13102555300304
HP:0000752HP:0000752Hyperactivity0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13222555300304
HP:0000752HP:0000752Hyperactivity0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13102555300304
HP:0000752HP:0000752Hyperactivity0CUX2 CL E G H233162382ORPHA17519347610648
HP:0000752HP:0000752Hyperactivity0CUX2 CL E G H233162382ORPHA16819347610648
HP:0000752HP:0000752Hyperactivity0CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM126239301012
HP:0000752HP:0000752Hyperactivity0DDX3X CL E G H1654457260ORPHA14962745300160
HP:0000752HP:0000752Hyperactivity0DDX3X CL E G H1654457260ORPHA14612745300160
HP:0000752HP:0000752Hyperactivity0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0000752HP:0000752Hyperactivity0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0000752HP:0000752Hyperactivity0DNM1 CL E G H17592382ORPHA15062972602377
HP:0000752HP:0000752Hyperactivity0DNM1 CL E G H17592382ORPHA14592972602377
HP:0000752HP:0000752Hyperactivity0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1379964601671
HP:0000752HP:0000752Hyperactivity0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1459964601671
HP:0000752HP:0000752Hyperactivity0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0000752HP:0000752Hyperactivity0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0000752HP:0000752Hyperactivity0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12863133300205
HP:0000752HP:0000752Hyperactivity0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12653133300205
HP:0000752HP:0000752Hyperactivity0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000752HP:0000752Hyperactivity0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000752HP:0000752Hyperactivity0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM16783373602700
HP:0000752HP:0000752Hyperactivity0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM17313373602700
HP:0000752HP:0000752Hyperactivity0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM115013590607871
HP:0000752HP:0000752Hyperactivity0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM129913590607871
HP:0000752HP:0000752Hyperactivity0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000752HP:0000752Hyperactivity0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000752HP:0000752Hyperactivity0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0000752HP:0000752Hyperactivity0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0000752HP:0000752Hyperactivity0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000752HP:0000752Hyperactivity0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000752HP:0000752Hyperactivity0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0000752HP:0000752Hyperactivity0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0000752HP:0000752Hyperactivity0GABRB3 CL E G H25622382ORPHA16914083137192
HP:0000752HP:0000752Hyperactivity0GABRB3 CL E G H25622382ORPHA16454083137192
HP:0000752HP:0000752Hyperactivity0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16454083137192
HP:0000752HP:0000752Hyperactivity0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16914083137192
HP:0000752HP:0000752Hyperactivity0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11514208238330
HP:0000752HP:0000752Hyperactivity0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11574208238330
HP:0000752HP:0000752Hyperactivity0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM112744313238300
HP:0000752HP:0000752Hyperactivity0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM115234313238300
HP:0000752HP:0000752Hyperactivity0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0000752HP:0000752Hyperactivity0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0000752HP:0000752Hyperactivity0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16024868605837
HP:0000752HP:0000752Hyperactivity0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16224868605837
HP:0000752HP:0000752Hyperactivity0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0000752HP:0000752Hyperactivity0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0000752HP:0000752Hyperactivity0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12034921143054
HP:0000752HP:0000752Hyperactivity0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12234921143054
HP:0000752HP:0000752Hyperactivity0HTT CL E G H3064248111ORPHA13934851613004
HP:0000752HP:0000752Hyperactivity0HTT CL E G H3064248111ORPHA11454851613004
HP:0000752HP:0000752Hyperactivity0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11705464147440
HP:0000752HP:0000752Hyperactivity0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11785464147440
HP:0000752HP:0000752Hyperactivity0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM13385996300206
HP:0000752HP:0000752Hyperactivity0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM13265996300206
HP:0000752HP:0000752Hyperactivity0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000752HP:0000752Hyperactivity0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000752HP:0000752Hyperactivity0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0000752HP:0000752Hyperactivity0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0000752HP:0000752Hyperactivity0KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000752HP:0000752Hyperactivity0KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000752HP:0000752Hyperactivity0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM13921610610236
HP:0000752HP:0000752Hyperactivity0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14121610610236
HP:0000752HP:0000752Hyperactivity0MANBA CL E G H4126248510Beta-D-mannosidosis248510C4048196OMIM13116831609489
HP:0000752HP:0000752Hyperactivity0MANBA CL E G H4126248510Beta-D-mannosidosis248510C4048196OMIM12416831609489
HP:0000752HP:0000752Hyperactivity0MAPK10 CL E G H56022382ORPHA1646872602897
HP:0000752HP:0000752Hyperactivity0MAPK10 CL E G H56022382ORPHA1616872602897
HP:0000752HP:0000752Hyperactivity0MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000752HP:0000752Hyperactivity0MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000752HP:0000752Hyperactivity0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM194111957300188
HP:0000752HP:0000752Hyperactivity0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1103411957300188
HP:0000752HP:0000752Hyperactivity0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11967096300204
HP:0000752HP:0000752Hyperactivity0MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11927096300204
HP:0000752HP:0000752Hyperactivity0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0000752HP:0000752Hyperactivity0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0000752HP:0000752Hyperactivity0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM126407652602667
HP:0000752HP:0000752Hyperactivity0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM124027652602667
HP:0000752HP:0000752Hyperactivity0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM173629433300524
HP:0000752HP:0000752Hyperactivity0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM165029433300524
HP:0000752HP:0000752Hyperactivity0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0000752HP:0000752Hyperactivity0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0000752HP:0000752Hyperactivity0NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM18208031191315
HP:0000752HP:0000752Hyperactivity0NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM17328031191315
HP:0000752HP:0000752Hyperactivity0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13588148300127
HP:0000752HP:0000752Hyperactivity0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13448148300127
HP:0000752HP:0000752Hyperactivity0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12728592300142
HP:0000752HP:0000752Hyperactivity0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12648592300142
HP:0000752HP:0000752Hyperactivity0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM133115894606157
HP:0000752HP:0000752Hyperactivity0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM126315894606157
HP:0000752HP:0000752Hyperactivity0PDE4D CL E G H5144280651ORPHA13548783600129
HP:0000752HP:0000752Hyperactivity0PDE4D CL E G H5144280651ORPHA13308783600129
HP:0000752HP:0000752Hyperactivity0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM13308783600129
HP:0000752HP:0000752Hyperactivity0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM13548783600129
HP:0000752HP:0000752Hyperactivity0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0000752HP:0000752Hyperactivity0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0000752HP:0000752Hyperactivity0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0000752HP:0000752Hyperactivity0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0000752HP:0000752Hyperactivity0PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM16809154605610
HP:0000752HP:0000752Hyperactivity0PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM17699154605610
HP:0000752HP:0000752Hyperactivity0PRKAR1A CL E G H5573280651ORPHA17259388188830
HP:0000752HP:0000752Hyperactivity0PRKAR1A CL E G H5573280651ORPHA16239388188830
HP:0000752HP:0000752Hyperactivity0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM16199453606810
HP:0000752HP:0000752Hyperactivity0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM15939453606810
HP:0000752HP:0000752Hyperactivity0PTCH1 CL E G H572777301ORPHA129889585601309
HP:0000752HP:0000752Hyperactivity0PTCH1 CL E G H572777301ORPHA126289585601309
HP:0000752HP:0000752Hyperactivity0RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM130316499300774
HP:0000752HP:0000752Hyperactivity0RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM129116499300774
HP:0000752HP:0000752Hyperactivity0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM18069834607642
HP:0000752HP:0000752Hyperactivity0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM15159834607642
HP:0000752HP:0000752Hyperactivity0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM111823625611053
HP:0000752HP:0000752Hyperactivity0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM141223625611053
HP:0000752HP:0000752Hyperactivity0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM142821637608148
HP:0000752HP:0000752Hyperactivity0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM147721637608148
HP:0000752HP:0000752Hyperactivity0SCN1A CL E G H63232382ORPHA1307610585182389
HP:0000752HP:0000752Hyperactivity0SCN1A CL E G H63232382ORPHA1271310585182389
HP:0000752HP:0000752Hyperactivity0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0000752HP:0000752Hyperactivity0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0000752HP:0000752Hyperactivity0SHANK3 CL E G H8535848652ORPHA163814294606230
HP:0000752HP:0000752Hyperactivity0SHANK3 CL E G H8535848652ORPHA161714294606230
HP:0000752HP:0000752Hyperactivity0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM123615454602775
HP:0000752HP:0000752Hyperactivity0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM127715454602775
HP:0000752HP:0000752Hyperactivity0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0000752HP:0000752Hyperactivity0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0000752HP:0000752Hyperactivity0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000752HP:0000752Hyperactivity0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000752HP:0000752Hyperactivity0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM17110942600229
HP:0000752HP:0000752Hyperactivity0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM110510942600229
HP:0000752HP:0000752Hyperactivity0SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0000752HP:0000752Hyperactivity0SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0000752HP:0000752Hyperactivity0SMC1A CL E G H8243319182ORPHA169011111300040
HP:0000752HP:0000752Hyperactivity0SMC1A CL E G H8243319182ORPHA163511111300040
HP:0000752HP:0000752Hyperactivity0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM112811257182125
HP:0000752HP:0000752Hyperactivity0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM114511257182125
HP:0000752HP:0000752Hyperactivity0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18011540602955
HP:0000752HP:0000752Hyperactivity0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18211540602955
HP:0000752HP:0000752Hyperactivity0TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM15530765610005
HP:0000752HP:0000752Hyperactivity0TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM16230765610005
HP:0000752HP:0000752Hyperactivity0TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM141230832611966
HP:0000752HP:0000752Hyperactivity0TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM147730832611966
HP:0000752HP:0000752Hyperactivity0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM119112306604506
HP:0000752HP:0000752Hyperactivity0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM120712306604506
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H7253424ORPHA120312373603372
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H725399819ORPHA120412373603372
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H725399819ORPHA120312373603372
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H7253424ORPHA120412373603372
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120312373603372
HP:0000752HP:0000752Hyperactivity0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120412373603372
HP:0000752HP:0000752Hyperactivity0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM19626262614426
HP:0000752HP:0000752Hyperactivity0TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM110326262614426
HP:0000752HP:0000752Hyperactivity0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM194812496601623
HP:0000752HP:0000752Hyperactivity0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM189712496601623
HP:0000752HP:0000752Hyperactivity0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14521237614461
HP:0000752HP:0000752Hyperactivity0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14721237614461
HP:0000752HP:0000752Hyperactivity0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM152424502613583
HP:0000752HP:0000752Hyperactivity0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM161524502613583
HP:0000752HP:0000752Hyperactivity0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM18612843607472
HP:0000752HP:0000752Hyperactivity0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19212843607472
HP:0000752HP:0000752Hyperactivity0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM111629316615951
HP:0000752HP:0000752Hyperactivity0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM125829316615951
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13493776300806
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AFF2 CL E G H2334309548FRAXE309548C0751157OMIM13413776300806
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0000752HP:0007018Attention deficit hyperactivity disorder1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1505494600465
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1364494600465
HP:0000752HP:0007018Attention deficit hyperactivity disorder1APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM119424036612034
HP:0000752HP:0007018Attention deficit hyperactivity disorder1APC2 CL E G H10297617169Sotos syndrome 3617169C4310684OMIM117924036612034
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1234663608313
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM1295663608313
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM117319088607999
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM115619088607999
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATP1A1 CL E G H476618314618314618314OMIM1131799182310
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATP1A1 CL E G H476618314618314618314OMIM186799182310
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM117530237610055
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CC2D1A CL E G H54862608443Mental retardation, autosomal recessive 3608443C1838023OMIM116930237610055
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHD2 CL E G H11062382ORPHA111631917602119
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CHD2 CL E G H11062382ORPHA113261917602119
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM13012252605000
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CORO1A CL E G H11151615401Immunodeficiency 8615401C3809383OMIM12602252605000
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CUL4B CL E G H845085293ORPHA13102555300304
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CUL4B CL E G H845085293ORPHA13222555300304
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13102555300304
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13222555300304
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CUX2 CL E G H233162382ORPHA16819347610648
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CUX2 CL E G H233162382ORPHA17519347610648
HP:0000752HP:0007018Attention deficit hyperactivity disorder1CXorf56 CL E G H63932301013MENTAL RETARDATION, X-LINKED 107301013CN244560OMIM126239301012
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DDX3X CL E G H1654457260ORPHA14612745300160
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DDX3X CL E G H1654457260ORPHA14962745300160
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DNM1 CL E G H17592382ORPHA14592972602377
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DNM1 CL E G H17592382ORPHA15062972602377
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1459964601671
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM1379964601671
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0000752HP:0007018Attention deficit hyperactivity disorder1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12653133300205
HP:0000752HP:0007018Attention deficit hyperactivity disorder1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12863133300205
HP:0000752HP:0007018Attention deficit hyperactivity disorder1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000752HP:0007018Attention deficit hyperactivity disorder1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000752HP:0007018Attention deficit hyperactivity disorder1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM17313373602700
HP:0000752HP:0007018Attention deficit hyperactivity disorder1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM16783373602700
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM129913590607871
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM115013590607871
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13173775309550
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM13223775309550
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0000752HP:0007018Attention deficit hyperactivity disorder1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GABRB3 CL E G H25622382ORPHA16454083137192
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GABRB3 CL E G H25622382ORPHA16914083137192
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16914083137192
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16454083137192
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11574208238330
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11514208238330
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM115234313238300
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM112744313238300
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16224868605837
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16024868605837
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12234921143054
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12034921143054
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HTT CL E G H3064248111ORPHA11454851613004
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HTT CL E G H3064248111ORPHA13934851613004
HP:0000752HP:0007018Attention deficit hyperactivity disorder1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11785464147440
HP:0000752HP:0007018Attention deficit hyperactivity disorder1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11705464147440
HP:0000752HP:0007018Attention deficit hyperactivity disorder1IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM13265996300206
HP:0000752HP:0007018Attention deficit hyperactivity disorder1IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM13385996300206
HP:0000752HP:0007018Attention deficit hyperactivity disorder1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000752HP:0007018Attention deficit hyperactivity disorder1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000752HP:0007018Attention deficit hyperactivity disorder1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0000752HP:0007018Attention deficit hyperactivity disorder1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0000752HP:0007018Attention deficit hyperactivity disorder1KMT2A CL E G H4297319182ORPHA16737132159555
HP:0000752HP:0007018Attention deficit hyperactivity disorder1KMT2A CL E G H4297319182ORPHA19747132159555
HP:0000752HP:0007018Attention deficit hyperactivity disorder1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14121610610236
HP:0000752HP:0007018Attention deficit hyperactivity disorder1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM13921610610236
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MANBA CL E G H4126248510Beta-D-mannosidosis248510C4048196OMIM12416831609489
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MANBA CL E G H4126248510Beta-D-mannosidosis248510C4048196OMIM13116831609489
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MAPK10 CL E G H56022382ORPHA1616872602897
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MAPK10 CL E G H56022382ORPHA1646872602897
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MBD5 CL E G H55777228402ORPHA187820444611472
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MBD5 CL E G H55777228402ORPHA199320444611472
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM1103411957300188
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM194111957300188
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11927096300204
HP:0000752HP:0007018Attention deficit hyperactivity disorder1MID2 CL E G H11043300928Mental retardation, X-linked 101300928C3890168OMIM11967096300204
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM124027652602667
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM126407652602667
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM165029433300524
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM173629433300524
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM17328031191315
HP:0000752HP:0007018Attention deficit hyperactivity disorder1NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM18208031191315
HP:0000752HP:0007018Attention deficit hyperactivity disorder1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13448148300127
HP:0000752HP:0007018Attention deficit hyperactivity disorder1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13588148300127
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12648592300142
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12728592300142
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM126315894606157
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM133115894606157
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PDE4D CL E G H5144280651ORPHA13308783600129
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PDE4D CL E G H5144280651ORPHA13548783600129
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM13548783600129
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM13308783600129
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM17699154605610
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM16809154605610
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PRKAR1A CL E G H5573280651ORPHA16239388188830
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PRKAR1A CL E G H5573280651ORPHA17259388188830
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM15939453606810
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM16199453606810
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PTCH1 CL E G H572777301ORPHA126289585601309
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PTCH1 CL E G H572777301ORPHA129889585601309
HP:0000752HP:0007018Attention deficit hyperactivity disorder1RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM129116499300774
HP:0000752HP:0007018Attention deficit hyperactivity disorder1RAB39B CL E G H116442300271Mental retardation, X-linked 72300271C1846038OMIM130316499300774
HP:0000752HP:0007018Attention deficit hyperactivity disorder1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM15159834607642
HP:0000752HP:0007018Attention deficit hyperactivity disorder1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM18069834607642
HP:0000752HP:0007018Attention deficit hyperactivity disorder1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM141223625611053
HP:0000752HP:0007018Attention deficit hyperactivity disorder1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM111823625611053
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM147721637608148
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM142821637608148
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SCN1A CL E G H63232382ORPHA1271310585182389
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SCN1A CL E G H63232382ORPHA1307610585182389
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SHANK3 CL E G H8535848652ORPHA161714294606230
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SHANK3 CL E G H8535848652ORPHA163814294606230
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM127715454602775
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM123615454602775
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM124829215300579
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM126029215300579
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM110510942600229
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM17110942600229
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SMC1A CL E G H8243319182ORPHA163511111300040
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SMC1A CL E G H8243319182ORPHA169011111300040
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM114511257182125
HP:0000752HP:0007018Attention deficit hyperactivity disorder1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM112811257182125
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18211540602955
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18011540602955
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM16230765610005
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TNIK CL E G H23043617028Mental retardation, autosomal recessive 54617028C4310755OMIM15530765610005
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM147730832611966
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TRAPPC9 CL E G H83696613192Mental retardation, autosomal recessive 13613192C2750791OMIM141230832611966
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM120712306604506
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM119112306604506
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TSHR CL E G H725399819ORPHA120312373603372
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TSHR CL E G H7253424ORPHA120412373603372
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TSHR CL E G H7253424ORPHA120312373603372
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TSHR CL E G H725399819ORPHA120412373603372
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120412373603372
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120312373603372
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM110326262614426
HP:0000752HP:0007018Attention deficit hyperactivity disorder1TTI2 CL E G H80185615541Mental retardation, autosomal recessive 39615541C3809853OMIM19626262614426
HP:0000752HP:0007018Attention deficit hyperactivity disorder1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM189712496601623
HP:0000752HP:0007018Attention deficit hyperactivity disorder1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM194812496601623
HP:0000752HP:0007018Attention deficit hyperactivity disorder1UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14721237614461
HP:0000752HP:0007018Attention deficit hyperactivity disorder1UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14521237614461
HP:0000752HP:0007018Attention deficit hyperactivity disorder1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM161524502613583
HP:0000752HP:0007018Attention deficit hyperactivity disorder1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM152424502613583
HP:0000752HP:0007018Attention deficit hyperactivity disorder1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19212843607472
HP:0000752HP:0007018Attention deficit hyperactivity disorder1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM18612843607472
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM125829316615951
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM111629316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000752HP:0000752Hyperactivity0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM07625151615302
HP:0000752HP:0000752Hyperactivity0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM08525151615302
HP:0000752HP:0000752Hyperactivity0BCAP31 CL E G H10134369939ORPHA030116695300398
HP:0000752HP:0000752Hyperactivity0BCAP31 CL E G H10134369939ORPHA028216695300398
HP:0000752HP:0000752Hyperactivity0BSCL2 CL E G H26580363400ORPHA037315832606158
HP:0000752HP:0000752Hyperactivity0BSCL2 CL E G H26580363400ORPHA033015832606158
HP:0000752HP:0000752Hyperactivity0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM04962745300160
HP:0000752HP:0000752Hyperactivity0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM04612745300160
HP:0000752HP:0000752Hyperactivity0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM06083091600855
HP:0000752HP:0000752Hyperactivity0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM06683091600855
HP:0000752HP:0000752Hyperactivity0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM015930778614998
HP:0000752HP:0000752Hyperactivity0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM021230778614998
HP:0000752HP:0000752Hyperactivity0HAL CL E G H30342157ORPHA01324806609457
HP:0000752HP:0000752Hyperactivity0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA012158582612349
HP:0000752HP:0000752Hyperactivity0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA011648582612349
HP:0000752HP:0000752Hyperactivity0PUF60 CL E G H22827508488ORPHA016317042604819
HP:0000752HP:0000752Hyperactivity0PUF60 CL E G H22827508488ORPHA015117042604819
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM08525151615302
HP:0000752HP:0007018Attention deficit hyperactivity disorder1ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM07625151615302
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BCAP31 CL E G H10134369939ORPHA028216695300398
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BCAP31 CL E G H10134369939ORPHA030116695300398
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BSCL2 CL E G H26580363400ORPHA033015832606158
HP:0000752HP:0007018Attention deficit hyperactivity disorder1BSCL2 CL E G H26580363400ORPHA037315832606158
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM04612745300160
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM04962745300160
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM06683091600855
HP:0000752HP:0007018Attention deficit hyperactivity disorder1DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM06083091600855
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM021230778614998
HP:0000752HP:0007018Attention deficit hyperactivity disorder1GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM015930778614998
HP:0000752HP:0007018Attention deficit hyperactivity disorder1HAL CL E G H30342157ORPHA01324806609457
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA011648582612349
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA012158582612349
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PUF60 CL E G H22827508488ORPHA015117042604819
HP:0000752HP:0007018Attention deficit hyperactivity disorder1PUF60 CL E G H22827508488ORPHA016317042604819


Genes (265) :AARS AASS ABCD1 ACY1 ADAT3 ADNP ADSL AFF2 ALDH5A1 AMT ANK3 AP3B2 APC2 ARG1 ARID2 ARV1 ARVCF ASH1L ASPM ATP1A1 ATP6V1A ATR ATRX BAZ1B BCAP31 BCR BSCL2 C12ORF4 CACNA1A CAMTA1 CC2D1A CCBE1 CHD2 CHD7 CHRNA7 CIC CLIP2 CLTC CNKSR2 CNTNAP2 COL11A2 COL2A1 COMT CORO1A COX1 COX2 COX3 CPLX1 CRBN CREBBP CRKL CSNK2A1 CUL4B CUX2 CXORF56 CXorf56 CYFIP2 DDX3X DEAF1 DHCR7 DHDDS DHTKD1 DNAJC12 DNM1 DPF2 DPP6 DPYD DYM DYRK1A EBP EEF1A2 ELN EP300 EPCAM FAN1 FBXO11 FGD1 FGF12 FLCN FLI1 FLII FMR1 FOXP1 FRMPD4 GABRB2 GABRB3 GATA4 GATAD2B GCSH GLDC GNAQ GNB5 GNE GNS GP1BB GRIA4 GRIN2A GRIN2D GTF2I GTF2IRD1 HAL HCN1 HDAC4 HDAC8 HERC2 HGSNAT HIRA HIVEP2 HSPG2 HTT IGF1 IKBKG IL1RAPL1 INPP5E IPW IQSEC2 JMJD1C KANSL1 KCNA2 KCNB1 KIF11 KIF14 KMT2A KRAS LHCGR LIG4 LIMK1 LNPK MAGEL2 MANBA MAPK1 MAPK10 MBD5 MCTP2 MED12 MID2 MKRN3 MKRN3-AS1 MLH1 MLH3 MLXIPL MSH2 MSH6 NAGLU NBN ND1 ND4 ND5 ND6 NDN NDP NECAP1 NEXMIF NIPBL NOP56 NPAP1 NSDHL NSUN2 NTRK1 NTRK2 NUS1 OCRL OPHN1 PAH PAK3 PANK2 PCNT PDE4D PHIP PIEZO2 PIGY PIK3CA PLA2G6 PMS1 PMS2 PNKP PPM1D PPP3CA PRKAR1A PRKCG PRNP PRODH PTCH1 PUF60 PWAR1 PWRN1 RAB39B RAD21 RAI1 RFC2 RREB1 RUSC2 SATB2 SCN1A SCN3A SCN8A SEC24C SEMA3E SETBP1 SETD5 SGSH SH2B1 SHANK3 SHOC2 SHROOM4 SIM1 SIN3A SLC13A5 SLC1A2 SLC1A4 SLC6A8 SLITRK1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SOX5 SPG7 SPR SPRED1 STS STXBP1 SYNGAP1 SYNJ1 SZT2 TAF1 TAF6 TBC1D24 TBL2 TBX1 TGFBR2 THRB TKT TLK2 TMCO1 TNIK TRAK1 TRAPPC9 TRIO TRIP12 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TSHR TTI2 UBA5 UBE3A UFD1 UPF3B UQCC2 VPS13A WAC WDR62 WWOX YME1L1 YWHAG ZDHHC9 ZSWIM6

Diseases (194) :238700 609924 615286 615873 103050 309548 271980 605899 615493 617169 207800 617796 618314 210600 309580 369939 363400 615924 614756 608443 235510 2382 610042 615401 180849 85293 300354 301013 457260 300958 270400 618027 274270 614104 300960 613684 618089 610883 300624 613670 300983 617113 615074 252940 2157 615516 252930 616977 248111 608747 300143 213300 610443 319182 618090 248510 228402 309520 300928 252920 251260 300912 300831 256800 300486 2209 300558 234200 280651 614613 616809 610217 613402 239500 77301 508488 300271 182290 617773 612313 252900 48652 607721 300434 613406 616657 52503 612716 617126 617028 613192 617752 424 99819 609152 615541 105830 615824 604317 617302 617865 442835 300100 617808 567 608716 904 261330 618221 138 199318 617600 617854 301008 3450 550 352582 607417 617062 819 818 204750 617384 616311 239 194050 144 915 305400 2308 908 251071 3205 617182 3166 269921 617864 245570 1001 199 176270 800 73272 464 152950 617914 3000 235 1596 776 305450 647 649 276198 534 137831 79254 261600 216866 2637 617991 2461 617450 605361 280397 1713 251019 614306 616078 261222 261197 369873 94065 300352 137580 313892 99013 611431 461 281090 300966 1727 188400 188570 617044 618050 213980 617061 191100 613254 238446 2388 616708 617665
 

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