Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Intellectual disability (HP:0001249)help
..Starting node
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Intellectual disability, mild (HP:0001256)help
Term ID: 1256
Name: Intellectual disability, mild
Synonym: Intellectual disability, mild; Mental retardation, borderline-mild; Mental retardation, mild; Mild and nonprogressive mental retardation; Mild mental retardation
Definition: Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Comments:
Reference: HP:0001256
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, borderline (HP:0006889) help
..expandIntellectual disability, moderate (HP:0002342) help
..expandIntellectual disability, profound (HP:0002187) help
..expandIntellectual disability, progressive (HP:0006887) help
..expandIntellectual disability, severe (HP:0010864) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001256HP:0001256Intellectual disability, mild0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM111817366605113
HP:0001256HP:0001256Intellectual disability, mild0ABCC9 CL E G H100601517ORPHA1126660601439
HP:0001256HP:0001256Intellectual disability, mild0ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA1126660601439
HP:0001256HP:0001256Intellectual disability, mild0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1126660601439
HP:0001256HP:0001256Intellectual disability, mild0ACOX2 CL E G H8309617308Bile acid synthesis defect, congenital, 6617308C4310624OMIM182120601641
HP:0001256HP:0001256Intellectual disability, mild0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1406132102630
HP:0001256HP:0001256Intellectual disability, mild0ADAR CL E G H103225154ORPHA1818225146920
HP:0001256HP:0001256Intellectual disability, mild0AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001256HP:0001256Intellectual disability, mild0AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA11774321610860
HP:0001256HP:0001256Intellectual disability, mild0ALX4 CL E G H60529228390ORPHA1251450605420
HP:0001256HP:0001256Intellectual disability, mild0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM129326837300647
HP:0001256HP:0001256Intellectual disability, mild0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1532566603401
HP:0001256HP:0001256Intellectual disability, mild0APC CL E G H324261584ORPHA111490583611731
HP:0001256HP:0001256Intellectual disability, mild0ARID1B CL E G H57492251056ORPHA1120618040614556
HP:0001256HP:0001256Intellectual disability, mild0ARVCF CL E G H421567ORPHA1541728602269
HP:0001256HP:0001256Intellectual disability, mild0ATP2A2 CL E G H488124200Keratosis follicularis124200C0022595OMIM1189812108740
HP:0001256HP:0001256Intellectual disability, mild0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0001256HP:0001256Intellectual disability, mild0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM157020893300485
HP:0001256HP:0001256Intellectual disability, mild0BPTF CL E G H2186529962ORPHA11913581601819
HP:0001256HP:0001256Intellectual disability, mild0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM151917342300553
HP:0001256HP:0001256Intellectual disability, mild0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0001256HP:0001256Intellectual disability, mild0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM124829521615140
HP:0001256HP:0001256Intellectual disability, mild0C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001256HP:0001256Intellectual disability, mild0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1901382114815
HP:0001256HP:0001256Intellectual disability, mild0CAMTA1 CL E G H23261314647ORPHA133418806611501
HP:0001256HP:0001256Intellectual disability, mild0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM133418806611501
HP:0001256HP:0001256Intellectual disability, mild0CDK6 CL E G H1021616080Primary autosomal recessive microcephaly 12616080C4015156OMIM1491777603368
HP:0001256HP:0001256Intellectual disability, mild0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM15912022302910
HP:0001256HP:0001256Intellectual disability, mild0COMT CL E G H1312567ORPHA15862228116790
HP:0001256HP:0001256Intellectual disability, mild0CPLX1 CL E G H10815352582ORPHA11672309605032
HP:0001256HP:0001256Intellectual disability, mild0CRBN CL E G H51185607417Mental retardation, autosomal recessive 2607417C1843942OMIM114230185609262
HP:0001256HP:0001256Intellectual disability, mild0CTDP1 CL E G H915048431ORPHA13832498604927
HP:0001256HP:0001256Intellectual disability, mild0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM142823537614984
HP:0001256HP:0001256Intellectual disability, mild0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0001256HP:0001256Intellectual disability, mild0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0001256HP:0001256Intellectual disability, mild0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM123627030617048
HP:0001256HP:0001256Intellectual disability, mild0DPYD CL E G H1806293948ORPHA13793012612779
HP:0001256HP:0001256Intellectual disability, mild0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM14926114609842
HP:0001256HP:0001256Intellectual disability, mild0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0001256HP:0001256Intellectual disability, mild0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM16023436133520
HP:0001256HP:0001256Intellectual disability, mild0ERMARD CL E G H5578075857ORPHA123821056615532
HP:0001256HP:0001256Intellectual disability, mild0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM119417097602238
HP:0001256HP:0001256Intellectual disability, mild0EYA1 CL E G H2138166780Otofaciocervical syndrome 1166780C3714941OMIM14343519601653
HP:0001256HP:0001256Intellectual disability, mild0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM159703603134797
HP:0001256HP:0001256Intellectual disability, mild0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM12083671601515
HP:0001256HP:0001256Intellectual disability, mild0FGFR2 CL E G H2263168624ORPHA15673689176943
HP:0001256HP:0001256Intellectual disability, mild0FIBP CL E G H9158617107Thauvin-Robinet-Faivre syndrome617107C4310715OMIM1373705608296
HP:0001256HP:0001256Intellectual disability, mild0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0001256HP:0001256Intellectual disability, mild0FLNA CL E G H231690650ORPHA125383754300017
HP:0001256HP:0001256Intellectual disability, mild0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM125383754300017
HP:0001256HP:0001256Intellectual disability, mild0FLNA CL E G H2316300049Periventricular nodular heterotopia 1300049C1848213OMIM125383754300017
HP:0001256HP:0001256Intellectual disability, mild0FMR1 CL E G H2332261483ORPHA13383775309550
HP:0001256HP:0001256Intellectual disability, mild0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0001256HP:0001256Intellectual disability, mild0GATA4 CL E G H2626251071ORPHA16304173600576
HP:0001256HP:0001256Intellectual disability, mild0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM16964298611458
HP:0001256HP:0001256Intellectual disability, mild0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0001256HP:0001256Intellectual disability, mild0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM160323026607838
HP:0001256HP:0001256Intellectual disability, mild0GP1BB CL E G H2812567ORPHA14494440138720
HP:0001256HP:0001256Intellectual disability, mild0H19 CL E G H2831202128Enolase deficiency type 3ORPHA1584713103280
HP:0001256HP:0001256Intellectual disability, mild0HDAC6 CL E G H10013163966ORPHA120314064300272
HP:0001256HP:0001256Intellectual disability, mild0HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM120314064300272
HP:0001256HP:0001256Intellectual disability, mild0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM124726361611642
HP:0001256HP:0001256Intellectual disability, mild0HIRA CL E G H7290567ORPHA14354916600237
HP:0001256HP:0001256Intellectual disability, mild0HMGA2 CL E G H809194063ORPHA1275009600698
HP:0001256HP:0001256Intellectual disability, mild0HPD CL E G H32422767104-Hydroxyphenylpyruvate dioxygenase deficiency276710C0268623OMIM11585147609695
HP:0001256HP:0001256Intellectual disability, mild0HPRT1 CL E G H3251510ORPHA13275157308000
HP:0001256HP:0001256Intellectual disability, mild0HUWE1 CL E G H1007585328ORPHA191930892300697
HP:0001256HP:0001256Intellectual disability, mild0IGF1 CL E G H347973272ORPHA11835464147440
HP:0001256HP:0001256Intellectual disability, mild0IGF2 CL E G H34812128Enolase deficiency type 3ORPHA1985466147470
HP:0001256HP:0001256Intellectual disability, mild0JMJD1C CL E G H221037567ORPHA197112313604503
HP:0001256HP:0001256Intellectual disability, mild0KCNC3 CL E G H374898768ORPHA12166235176264
HP:0001256HP:0001256Intellectual disability, mild0KCNJ8 CL E G H37641517ORPHA11736269600935
HP:0001256HP:0001256Intellectual disability, mild0KCNQ1OT1 CL E G H109842128Enolase deficiency type 3ORPHA12326295604115
HP:0001256HP:0001256Intellectual disability, mild0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM16056388148760
HP:0001256HP:0001256Intellectual disability, mild0LEMD3 CL E G H2359294063ORPHA129928887607844
HP:0001256HP:0001256Intellectual disability, mild0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM113546697603506
HP:0001256HP:0001256Intellectual disability, mild0MARS CL E G H4141401835ORPHA16898156560
HP:0001256HP:0001256Intellectual disability, mild0MARS2 CL E G H92935314603ORPHA113025133609728
HP:0001256HP:0001256Intellectual disability, mild0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12246901600521
HP:0001256HP:0001256Intellectual disability, mild0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM117786990300005
HP:0001256HP:0001256Intellectual disability, mild0MGP CL E G H425685202ORPHA11297060154870
HP:0001256HP:0001256Intellectual disability, mild0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM11297060154870
HP:0001256HP:0001256Intellectual disability, mild0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM157817082605908
HP:0001256HP:0001256Intellectual disability, mild0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM18110545607545
HP:0001256HP:0001256Intellectual disability, mild0MSTO1 CL E G H55154502423ORPHA18529678617619
HP:0001256HP:0001256Intellectual disability, mild0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0001256HP:0001256Intellectual disability, mild0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001256HP:0001256Intellectual disability, mild0MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM12477432172460
HP:0001256HP:0001256Intellectual disability, mild0NAGA CL E G H466879280ORPHA11837631104170
HP:0001256HP:0001256Intellectual disability, mild0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11837631104170
HP:0001256HP:0001256Intellectual disability, mild0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1109177765613113
HP:0001256HP:0001256Intellectual disability, mild0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM11547782600492
HP:0001256HP:0001256Intellectual disability, mild0NGF CL E G H480364752ORPHA11617808162030
HP:0001256HP:0001256Intellectual disability, mild0NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM131213398300275
HP:0001256HP:0001256Intellectual disability, mild0NTRK1 CL E G H491464752ORPHA19818031191315
HP:0001256HP:0001256Intellectual disability, mild0NUP62 CL E G H23636225154ORPHA1978066605815
HP:0001256HP:0001256Intellectual disability, mild0PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM119617759607429
HP:0001256HP:0001256Intellectual disability, mild0PEX10 CL E G H5192247815ORPHA16548851602859
HP:0001256HP:0001256Intellectual disability, mild0PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM13508853603867
HP:0001256HP:0001256Intellectual disability, mild0PGAP1 CL E G H80055401820ORPHA126125712611655
HP:0001256HP:0001256Intellectual disability, mild0PHF8 CL E G H2313385287ORPHA127320672300560
HP:0001256HP:0001256Intellectual disability, mild0POLR3A CL E G H11128447896ORPHA178530074614258
HP:0001256HP:0001256Intellectual disability, mild0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM136830348614366
HP:0001256HP:0001256Intellectual disability, mild0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0001256HP:0001256Intellectual disability, mild0PSMD12 CL E G H5718529962ORPHA1539557604450
HP:0001256HP:0001256Intellectual disability, mild0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0001256HP:0001256Intellectual disability, mild0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM17169644176876
HP:0001256HP:0001256Intellectual disability, mild0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM17824713617387
HP:0001256HP:0001256Intellectual disability, mild0RAB3GAP2 CL E G H25782401830ORPHA147417168609275
HP:0001256HP:0001256Intellectual disability, mild0RAI1 CL E G H107431713ORPHA111499834607642
HP:0001256HP:0001256Intellectual disability, mild0RARS CL E G H5917438114ORPHA19870107820
HP:0001256HP:0001256Intellectual disability, mild0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM121434016601428
HP:0001256HP:0001256Intellectual disability, mild0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM11610410603683
HP:0001256HP:0001256Intellectual disability, mild0RREB1 CL E G H6239567ORPHA117510449602209
HP:0001256HP:0001256Intellectual disability, mild0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM110219440607444
HP:0001256HP:0001256Intellectual disability, mild0SCYL1 CL E G H57410466794ORPHA17314372607982
HP:0001256HP:0001256Intellectual disability, mild0SEC24C CL E G H9632567ORPHA12510705607185
HP:0001256HP:0001256Intellectual disability, mild0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM115116088615564
HP:0001256HP:0001256Intellectual disability, mild0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM121819353607776
HP:0001256HP:0001256Intellectual disability, mild0SLC35A3 CL E G H23443370943ORPHA119911023605632
HP:0001256HP:0001256Intellectual disability, mild0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM113011191600898
HP:0001256HP:0001256Intellectual disability, mild0SOX3 CL E G H6658300123Mental retardation with panhypopituitarism, X-linked300123C2678223OMIM123011199313430
HP:0001256HP:0001256Intellectual disability, mild0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0001256HP:0001256Intellectual disability, mild0SPTBN2 CL E G H6712352403ORPHA171611276604985
HP:0001256HP:0001256Intellectual disability, mild0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM114511301604857
HP:0001256HP:0001256Intellectual disability, mild0SRPX2 CL E G H27286300643Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked300643C1845070OMIM132330668300642
HP:0001256HP:0001256Intellectual disability, mild0SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM1111416466607035
HP:0001256HP:0001256Intellectual disability, mild0TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM13911546600774
HP:0001256HP:0001256Intellectual disability, mild0TBC1D24 CL E G H57465352582ORPHA179529203613577
HP:0001256HP:0001256Intellectual disability, mild0TBX1 CL E G H6899567ORPHA197211592602054
HP:0001256HP:0001256Intellectual disability, mild0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM115811742107580
HP:0001256HP:0001256Intellectual disability, mild0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM19411743601601
HP:0001256HP:0001256Intellectual disability, mild0TSPAN7 CL E G H7102300210Mental retardation 58, X-linked300210C1846174OMIM121911854300096
HP:0001256HP:0001256Intellectual disability, mild0UFD1 CL E G H7353567ORPHA140012520601754
HP:0001256HP:0001256Intellectual disability, mild0WDFY3 CL E G H23001617520Microcephaly 18, primary, autosomal dominant617520C4479608OMIM125920751617485
HP:0001256HP:0001256Intellectual disability, mild0WDR48 CL E G H57599401800ORPHA11230914612167
HP:0001256HP:0001256Intellectual disability, mild0ZC4H2 CL E G H559063454ORPHA123724931300897
HP:0001256HP:0001256Intellectual disability, mild0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0001256HP:0001256Intellectual disability, mild0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM117820342300576
HP:0001256HP:0001256Intellectual disability, mild0ZFR CL E G H51663401840ORPHA19017277615635
HP:0001256HP:0001256Intellectual disability, mild0ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM117916966608668
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001256HP:0001256Intellectual disability, mild0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM0224124171640
HP:0001256HP:0001256Intellectual disability, mild0ACVR1 CL E G H90135100Progressive myositis ossificans135100C0016037OMIM0169171102576
HP:0001256HP:0001256Intellectual disability, mild0ADAMTS10 CL E G H817943449Mehes syndromeORPHA048913201608990
HP:0001256HP:0001256Intellectual disability, mild0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM048913201608990
HP:0001256HP:0001256Intellectual disability, mild0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM0634391164730
HP:0001256HP:0001256Intellectual disability, mild0ANO10 CL E G H55129284289ORPHA024025519613726
HP:0001256HP:0001256Intellectual disability, mild0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM040811231606439
HP:0001256HP:0001256Intellectual disability, mild0BIN1 CL E G H274169186ORPHA05521052601248
HP:0001256HP:0001256Intellectual disability, mild0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM05521052601248
HP:0001256HP:0001256Intellectual disability, mild0BLM CL E G H641125ORPHA032011058604610
HP:0001256HP:0001256Intellectual disability, mild0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM032011058604610
HP:0001256HP:0001256Intellectual disability, mild0BRAF CL E G H673500ORPHA09481097164757
HP:0001256HP:0001256Intellectual disability, mild0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM031130794607951
HP:0001256HP:0001256Intellectual disability, mild0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03471960118511
HP:0001256HP:0001256Intellectual disability, mild0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM012582202120130
HP:0001256HP:0001256Intellectual disability, mild0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM02678603084
HP:0001256HP:0001256Intellectual disability, mild0DCC CL E G H1630238722ORPHA01752701120470
HP:0001256HP:0001256Intellectual disability, mild0DCC CL E G H1630157600Mirror movements 1157600C1834870OMIM01752701120470
HP:0001256HP:0001256Intellectual disability, mild0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM09328908606060
HP:0001256HP:0001256Intellectual disability, mild0DNAJC3 CL E G H5611445062ORPHA01059439601184
HP:0001256HP:0001256Intellectual disability, mild0DNAL4 CL E G H10126238722ORPHA0252955610565
HP:0001256HP:0001256Intellectual disability, mild0DONSON CL E G H29980617604MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES617604C4539873OMIM01582993611428
HP:0001256HP:0001256Intellectual disability, mild0FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM0131223109612411
HP:0001256HP:0001256Intellectual disability, mild0FBN1 CL E G H22003449Mehes syndromeORPHA059703603134797
HP:0001256HP:0001256Intellectual disability, mild0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM03463663300546
HP:0001256HP:0001256Intellectual disability, mild0FGF14 CL E G H225998764ORPHA02083671601515
HP:0001256HP:0001256Intellectual disability, mild0GBA2 CL E G H57704352641ORPHA027718986609471
HP:0001256HP:0001256Intellectual disability, mild0GLI3 CL E G H2737380ORPHA07514319165240
HP:0001256HP:0001256Intellectual disability, mild0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM07514319165240
HP:0001256HP:0001256Intellectual disability, mild0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM027322932615320
HP:0001256HP:0001256Intellectual disability, mild0GORAB CL E G H923442078ORPHA019825676607983
HP:0001256HP:0001256Intellectual disability, mild0GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM023929501609245
HP:0001256HP:0001256Intellectual disability, mild0HINT1 CL E G H3094324442ORPHA01304912601314
HP:0001256HP:0001256Intellectual disability, mild0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM013086188601920
HP:0001256HP:0001256Intellectual disability, mild0KIF1C CL E G H10749397946ORPHA03666317603060
HP:0001256HP:0001256Intellectual disability, mild0KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM022113672605328
HP:0001256HP:0001256Intellectual disability, mild0LMNB1 CL E G H400199027ORPHA01696637150340
HP:0001256HP:0001256Intellectual disability, mild0LTBP2 CL E G H40533449Mehes syndromeORPHA07706715602091
HP:0001256HP:0001256Intellectual disability, mild0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM01616859602614
HP:0001256HP:0001256Intellectual disability, mild0MT-TL1 CL E G H4567663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07490590050
HP:0001256HP:0001256Intellectual disability, mild0MT-TL2 CL E G H4568663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07491590055
HP:0001256HP:0001256Intellectual disability, mild0MT-TN CL E G H4570663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07493590010
HP:0001256HP:0001256Intellectual disability, mild0MT-TS1 CL E G H4574663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA07497590080
HP:0001256HP:0001256Intellectual disability, mild0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM020626274612803
HP:0001256HP:0001256Intellectual disability, mild0NGF CL E G H4803608654Congenital sensory neuropathy with selective loss of small myelinated fibers608654C0020075OMIM01617808162030
HP:0001256HP:0001256Intellectual disability, mild0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02507989164790
HP:0001256HP:0001256Intellectual disability, mild0NTN1 CL E G H9423238722ORPHA0268029601614
HP:0001256HP:0001256Intellectual disability, mild0PGAP2 CL E G H27315614207Hyperphosphatasia with mental retardation syndrome 3614207C3280153OMIM08317893615187
HP:0001256HP:0001256Intellectual disability, mild0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM075526270613629
HP:0001256HP:0001256Intellectual disability, mild0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM09758975171834
HP:0001256HP:0001256Intellectual disability, mild0PNPLA2 CL E G H5710498908ORPHA044330802609059
HP:0001256HP:0001256Intellectual disability, mild0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM094316268603197
HP:0001256HP:0001256Intellectual disability, mild0PRRT2 CL E G H11247698811ORPHA070230500614386
HP:0001256HP:0001256Intellectual disability, mild0PSMB8 CL E G H56962615ORPHA01619545177046
HP:0001256HP:0001256Intellectual disability, mild0PTPN11 CL E G H5781500ORPHA07169644176876
HP:0001256HP:0001256Intellectual disability, mild0PYCR1 CL E G H58312078ORPHA02089721179035
HP:0001256HP:0001256Intellectual disability, mild0RAD51 CL E G H5888238722ORPHA02609817179617
HP:0001256HP:0001256Intellectual disability, mild0RAF1 CL E G H5894500ORPHA08279829164760
HP:0001256HP:0001256Intellectual disability, mild0RNF135 CL E G H84282137634ORPHA011721158611358
HP:0001256HP:0001256Intellectual disability, mild0RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM024618647610502
HP:0001256HP:0001256Intellectual disability, mild0RYR1 CL E G H6261169186ORPHA0506210483180901
HP:0001256HP:0001256Intellectual disability, mild0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM07314372607982
HP:0001256HP:0001256Intellectual disability, mild0SHH CL E G H6469147250Single median maxillary incisor147250C1840235OMIM034010848600725
HP:0001256HP:0001256Intellectual disability, mild0SLC25A24 CL E G H299572095ORPHA08320662608744
HP:0001256HP:0001256Intellectual disability, mild0SLC29A3 CL E G H55315168569ORPHA034523096612373
HP:0001256HP:0001256Intellectual disability, mild0SLC2A1 CL E G H651398811ORPHA082711005138140
HP:0001256HP:0001256Intellectual disability, mild0SPEG CL E G H10290169186ORPHA090716901615950
HP:0001256HP:0001256Intellectual disability, mild0SRY CL E G H67361772ORPHA011311311480000
HP:0001256HP:0001256Intellectual disability, mild0TAC3 CL E G H6866614839Hypogonadotropic hypogonadism 10 with or without anosmia614839C3553843OMIM02211521162330
HP:0001256HP:0001256Intellectual disability, mild0TH CL E G H7054101150ORPHA079411782191290
HP:0001256HP:0001256Intellectual disability, mild0TTN CL E G H7273169186ORPHA02285912403188840
HP:0001256HP:0001256Intellectual disability, mild0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM039023595608877


Genes (195) :AASS ABCC9 ACOX2 ACP5 ACTB ACVR1 ADAMTS10 ADAR AFG3L2 AGL AKT1 ALX4 AMER1 ANO10 AP3B1 APC ARID1B ARVCF ATL1 ATP2A2 ATP6 B4GALNT1 BCOR BIN1 BLM BPTF BRAF BRWD3 BSCL2 C12ORF57 C12ORF65 C12orf57 C12orf65 CA8 CAMTA1 CDK6 CEP57 CHRNA7 CLCN4 COL4A1 COMT CPLX1 CRBN CTDP1 DARS DCC DHTKD1 DLAT DMD DNAJC12 DNAJC21 DNAJC3 DNAL4 DONSON DPYD EDC3 EP300 ERCC4 ERMARD EXOSC2 EYA1 FAT4 FBN1 FGD1 FGF14 FGFR2 FIBP FLCN FLNA FMR1 FTSJ1 GATA4 GBA2 GLB1 GLI3 GMPPB GNE GNPTG GORAB GP1BB GPSM2 H19 HDAC6 HEPACAM HINT1 HIRA HMGA2 HPD HPRT1 HUWE1 IGF1 IGF2 JAG1 JMJD1C KCNC3 KCNJ8 KCNQ1OT1 KIF11 KIF1C KLF13 LEMD3 LMNB1 LRP5 LTBP2 MAP3K7 MARS MARS2 MASP1 MECP2 MGP MLC1 MSMO1 MSTO1 MT-ATP6 MTHFD1 NAGA NARS2 NF1 NFE2L2 NGF NRAS NSDHL NTN1 NTRK1 NUP62 PDSS1 PEX10 PEX11B PGAP1 PGAP2 PHF8 PIEZO2 PIK3CA PNPLA2 PNPLA6 POLR3A POLR3B PRRT2 PSMB8 PSMD12 PTEN PTPN11 PYCR1 QRICH1 RAB3GAP2 RAD51 RAF1 RAI1 RARS RNF135 RNU4ATAC RPS23 RREB1 RTN4IP1 RYR1 SBDS SCYL1 SEC24C SFXN4 SHH SIN3A SLC25A24 SLC29A3 SLC2A1 SLC35A3 SOX11 SOX3 SPART SPEG SPTBN2 SRP54 SRPX2 SRY SUFU TAC3 TAF13 TBC1D24 TBX1 TFAP2A TFAP2B TH TRNL1 TRNL2 TRNN TRNS1 TSPAN7 TTN UFD1 VPS13D WDFY3 WDR48 ZC4H2 ZDHHC15 ZFR ZMYND11

Diseases (177) :238700 1517 965 239850 617308 607944 607371 135100 3449 277600 225154 313772 366 615109 228390 300373 284289 608233 261584 251056 567 182600 124200 609195 300166 169186 255200 125 210900 529962 500 300659 269700 218340 320375 613227 314647 614756 616080 614114 612001 300114 607595 352582 607417 48431 615281 238722 157600 204750 245348 310200 617384 260400 445062 617604 293948 616460 613684 610965 75857 617763 166780 616006 608328 305400 98764 609307 168624 617107 610883 90650 311300 300049 261483 309549 251071 352641 230650 380 175700 615352 3166 252605 2078 604213 2128 163966 300863 604004 324442 94063 276710 510 85328 73272 118450 98768 152950 397946 99027 259770 617137 401835 314603 257920 300055 85202 245150 616834 502423 617675 617780 79280 609242 616239 162200 617744 64752 608654 613224 308050 614651 247815 614920 401820 614207 85287 114300 615108 98908 215470 447896 614381 98811 2615 256040 158350 151100 617982 401830 1713 438114 137634 616651 617412 616732 466794 616719 615578 147250 613406 2095 168569 370943 615866 300123 275900 352403 300643 1772 617757 614839 617432 113620 169100 101150 663 300210 607317 617520 401800 3454 314580 300577 401840 616083
 

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