Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
expand
Abnormality of mouth size (HP:0011337)help
..Starting node
..expand
Wide mouth (HP:0000154)help
Term ID: 154
Name: Wide mouth
Synonym: Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth
Definition: Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Comments:
Reference: HP:0000154
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNarrow mouth (HP:0000160) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000154HP:0000154Wide mouth0ABCC9 CL E G H100601517ORPHA14965860601439
HP:0000154HP:0000154Wide mouth0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000154HP:0000154Wide mouth0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000154HP:0000154Wide mouth0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM148261144102560
HP:0000154HP:0000154Wide mouth0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000154HP:0000154Wide mouth0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0000154HP:0000154Wide mouth0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0000154HP:0000154Wide mouth0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000154HP:0000154Wide mouth0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA113472121316611192
HP:0000154HP:0000154Wide mouth0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0000154HP:0000154Wide mouth0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121140572607245
HP:0000154HP:0000154Wide mouth0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0000154HP:0000154Wide mouth0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0000154HP:0000154Wide mouth0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1859575607243
HP:0000154HP:0000154Wide mouth0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0000154HP:0000154Wide mouth0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0000154HP:0000154Wide mouth0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000154HP:0000154Wide mouth0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0000154HP:0000154Wide mouth0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0000154HP:0000154Wide mouth0ATIC CL E G H471250977ORPHA1857794601731
HP:0000154HP:0000154Wide mouth0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1857794601731
HP:0000154HP:0000154Wide mouth0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1493854606939
HP:0000154HP:0000154Wide mouth0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000154HP:0000154Wide mouth0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000154HP:0000154Wide mouth0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000154HP:0000154Wide mouth0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0000154HP:0000154Wide mouth0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0000154HP:0000154Wide mouth0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000154HP:0000154Wide mouth0CDKL5 CL E G H67923095ORPHA1388104611411300203
HP:0000154HP:0000154Wide mouth0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000154HP:0000154Wide mouth0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000154HP:0000154Wide mouth0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0000154HP:0000154Wide mouth0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000154HP:0000154Wide mouth0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0000154HP:0000154Wide mouth0DHCR7 CL E G H1717818ORPHA12183762860602858
HP:0000154HP:0000154Wide mouth0DPF2 CL E G H59771465ORPHA19149964601671
HP:0000154HP:0000154Wide mouth0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000154HP:0000154Wide mouth0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000154HP:0000154Wide mouth0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000154HP:0000154Wide mouth0FOXG1 CL E G H22903095ORPHA11693573811164874
HP:0000154HP:0000154Wide mouth0GABBR2 CL E G H95683095ORPHA182094507607340
HP:0000154HP:0000154Wide mouth0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0000154HP:0000154Wide mouth0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000154HP:0000154Wide mouth0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0000154HP:0000154Wide mouth0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0000154HP:0000154Wide mouth0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0000154HP:0000154Wide mouth0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0000154HP:0000154Wide mouth0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0000154HP:0000154Wide mouth0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0000154HP:0000154Wide mouth0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000154HP:0000154Wide mouth0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000154HP:0000154Wide mouth0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM11014029853617245
HP:0000154HP:0000154Wide mouth0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0000154HP:0000154Wide mouth0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0000154HP:0000154Wide mouth0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11964076091147670
HP:0000154HP:0000154Wide mouth0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0000154HP:0000154Wide mouth0KCNH1 CL E G H37563473MeningoencephaloceleORPHA113916250603305
HP:0000154HP:0000154Wide mouth0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0000154HP:0000154Wide mouth0KCNJ8 CL E G H37641517ORPHA18876269600935
HP:0000154HP:0000154Wide mouth0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0000154HP:0000154Wide mouth0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM1116524912612026
HP:0000154HP:0000154Wide mouth0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000154HP:0000154Wide mouth0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM1232136840176872
HP:0000154HP:0000154Wide mouth0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000154HP:0000154Wide mouth0MECP2 CL E G H42043095ORPHA1105014426990300005
HP:0000154HP:0000154Wide mouth0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000154HP:0000154Wide mouth0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000154HP:0000154Wide mouth0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000154HP:0000154Wide mouth0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000154HP:0000154Wide mouth0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0000154HP:0000154Wide mouth0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0000154HP:0000154Wide mouth0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM134510778008600565
HP:0000154HP:0000154Wide mouth0NTNG1 CL E G H228543095ORPHA143023319608818
HP:0000154HP:0000154Wide mouth0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0000154HP:0000154Wide mouth0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000154HP:0000154Wide mouth0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000154HP:0000154Wide mouth0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000154HP:0000154Wide mouth0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11210525712611655
HP:0000154HP:0000154Wide mouth0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0000154HP:0000154Wide mouth0PIGN CL E G H235562059ORPHA1344168967606097
HP:0000154HP:0000154Wide mouth0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0000154HP:0000154Wide mouth0PIK3CA CL E G H529060040ORPHA1573798975171834
HP:0000154HP:0000154Wide mouth0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000154HP:0000154Wide mouth0PTDSS1 CL E G H97912658ORPHA17609587612792
HP:0000154HP:0000154Wide mouth0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM192524713617387
HP:0000154HP:0000154Wide mouth0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM1545089829164760
HP:0000154HP:0000154Wide mouth0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000154HP:0000154Wide mouth0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0000154HP:0000154Wide mouth0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0000154HP:0000154Wide mouth0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0000154HP:0000154Wide mouth0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000154HP:0000154Wide mouth0SEC23A CL E G H1048450814ORPHA144810701610511
HP:0000154HP:0000154Wide mouth0SEC23A CL E G H10484607812Craniolenticulosutural dysplasia607812C1843042OMIM144810701610511
HP:0000154HP:0000154Wide mouth0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM177210760600960
HP:0000154HP:0000154Wide mouth0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000154HP:0000154Wide mouth0SF3B4 CL E G H10262245ORPHA1385810771605593
HP:0000154HP:0000154Wide mouth0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000154HP:0000154Wide mouth0SH3PXD2B CL E G H285590137834ORPHA12026629242613293
HP:0000154HP:0000154Wide mouth0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000154HP:0000154Wide mouth0SMARCA2 CL E G H65953051ORPHA17844511098600014
HP:0000154HP:0000154Wide mouth0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM17844511098600014
HP:0000154HP:0000154Wide mouth0SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0000154HP:0000154Wide mouth0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0000154HP:0000154Wide mouth0SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0000154HP:0000154Wide mouth0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000154HP:0000154Wide mouth0SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0000154HP:0000154Wide mouth0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0000154HP:0000154Wide mouth0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0000154HP:0000154Wide mouth0SOX11 CL E G H66641465ORPHA1147011191600898
HP:0000154HP:0000154Wide mouth0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0000154HP:0000154Wide mouth0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM14424516974611421
HP:0000154HP:0000154Wide mouth0SSR4 CL E G H6748370927ORPHA1725011326300090
HP:0000154HP:0000154Wide mouth0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0000154HP:0000154Wide mouth0STXBP1 CL E G H68123095ORPHA119553811444602926
HP:0000154HP:0000154Wide mouth0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0000154HP:0000154Wide mouth0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000154HP:0000154Wide mouth0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0000154HP:0000154Wide mouth0TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM133325011654606847
HP:0000154HP:0000154Wide mouth0TMCO1 CL E G H544991394ORPHA153318188614123
HP:0000154HP:0000154Wide mouth0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0000154HP:0000154Wide mouth0TMEM70 CL E G H549681194ORPHA11815126050612418
HP:0000154HP:0000154Wide mouth0TRIP12 CL E G H9320617752MENTAL RETARDATION, AUTOSOMAL DOMINANT 49617752C4540324OMIM1339912306604506
HP:0000154HP:0000154Wide mouth0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H1175811231ORPHA198820670607556
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM198820670607556
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000154HP:0000154Wide mouth0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0000154HP:0000154Wide mouth0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM12619312472312180
HP:0000154HP:0000154Wide mouth0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0000154HP:0000154Wide mouth0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0000154HP:0000154Wide mouth0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000154HP:0000154Wide mouth0ZMYND11 CL E G H10771616083Mental retardation, autosomal dominant 30616083C4015167OMIM11511016966608668
HP:0000154HP:0000154Wide mouth0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000154HP:0000154Wide mouth0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM06817915766611386
HP:0000154HP:0000154Wide mouth0AP4B1 CL E G H10717280763ORPHA021140572607245
HP:0000154HP:0000154Wide mouth0AP4E1 CL E G H23431280763ORPHA018178573607244
HP:0000154HP:0000154Wide mouth0AP4M1 CL E G H9179280763ORPHA015150574602296
HP:0000154HP:0000154Wide mouth0AP4S1 CL E G H11154280763ORPHA0859575607243
HP:0000154HP:0000154Wide mouth0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM03617511110603024
HP:0000154HP:0000154Wide mouth0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM06224214262607270
HP:0000154HP:0000154Wide mouth0B3GLCT CL E G H145173709ORPHA01518120207610308
HP:0000154HP:0000154Wide mouth0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0000154HP:0000154Wide mouth0DPYD CL E G H1806293948ORPHA01242853012612779
HP:0000154HP:0000154Wide mouth0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM02813922140611061
HP:0000154HP:0000154Wide mouth0HDAC6 CL E G H10013163966ORPHA0319614064300272
HP:0000154HP:0000154Wide mouth0IDUA CL E G H342593474ORPHA02916225391252800
HP:0000154HP:0000154Wide mouth0LIG4 CL E G H3981235ORPHA0403176601601837
HP:0000154HP:0000154Wide mouth0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM041687871300084
HP:0000154HP:0000154Wide mouth0NSUN2 CL E G H54888235ORPHA0726025994610916
HP:0000154HP:0000154Wide mouth0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0000154HP:0000154Wide mouth0POLR1C CL E G H9533861ORPHA0219220194610060
HP:0000154HP:0000154Wide mouth0POLR1D CL E G H51082861ORPHA0264820422613715
HP:0000154HP:0000154Wide mouth0PSPH CL E G H572379350ORPHA091099577172480
HP:0000154HP:0000154Wide mouth0RAI1 CL E G H107431713ORPHA01164049834607642
HP:0000154HP:0000154Wide mouth0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0000154HP:0000154Wide mouth0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM0512930172608626
HP:0000154HP:0000154Wide mouth0TCOF1 CL E G H6949861ORPHA033325011654606847
HP:0000154HP:0000154Wide mouth0ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA026229316615951


Genes (130) :ABCC9 ACTB ACTG1 ADAMTSL2 ADNP ADSL AGA ANKRD11 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 ARID1A ARID1B ARID2 ASXL3 ATIC ATP6V1B2 ATRX AUTS2 B3GLCT BAZ1B BRPF1 CC2D2A CD96 CDC42 CDKL5 CENPF CLIP2 CUL4B DACT1 DDX11 DHCR7 DPF2 DPYD ELN FAM20C FLCN FOXG1 GABBR2 GALNS GATAD2B GLB1 GNS GPC3 GPC4 GTF2I GTF2IRD1 HDAC6 HECW2 HNRNPH2 IDUA IFT140 INSR IRX5 KCNH1 KCNJ8 KLHL15 LARP7 LIG4 LIMK1 MAP2K1 MBD5 MECP2 MED12 MED13L MGAT2 MKS1 MTOR NALCN NONO NRXN1 NSUN2 NTNG1 NXN OFD1 PACS1 PACS2 PGAP1 PIGL PIGN PIGY PIK3CA POLR1C POLR1D PPM1D PSPH PTDSS1 QRICH1 RAF1 RAI1 RFC2 RNF113A ROR2 RPGRIP1L RPS6KA3 SALL1 SEC23A SET SETBP1 SF3B4 SH3PXD2B SMARCA2 SMARCA4 SMARCB1 SMARCE1 SNIP1 SOX11 SRCAP SSR4 STRADA STXBP1 TALDO1 TBL2 TCF4 TCOF1 TMCO1 TMEM67 TMEM70 TRIP12 TTC37 TWIST2 UBE2A UBE3A UBE3B WDR73 ZMYND11 ZNF148 ZSWIM6

Diseases (124) :1517 243310 2995 614583 231050 615873 103050 208400 261250 304340 280763 614066 613744 612936 614067 1465 614607 135900 615485 250977 608688 3473 309580 615834 709 904 617333 216360 211750 616737 3095 243605 85293 300354 857 613398 818 618027 293948 259775 610883 253000 615074 253010 252940 373 312870 163966 617268 300986 93474 266920 246200 611174 611816 300982 615071 235 615279 156200 305450 616789 212066 249000 616638 615419 300967 614325 1507 300209 615009 618067 615802 280000 2059 280633 616809 60040 861 617450 79350 2658 617982 611553 1713 300953 192 50814 607812 618106 798 245 154400 137834 249420 3051 601358 614609 614608 616938 614501 2044 136140 370927 300934 611087 606003 2896 154500 1394 1194 617752 222470 1231 200110 209885 920 300860 105830 2707 251300 616083 617260 1827
 

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