Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
expand
Abnormality of mouth shape (HP:0011338)help
..Starting node
..expand
Open mouth (HP:0000194)help
Term ID: 194
Name: Open mouth
Synonym: Gaped jawed appearance; Gaped mouthed appearance; Open mouth; Open mouth appearance; Slack jawed appearance
Definition: A facial appearance characterized by a permanently or nearly permanently opened mouth.
Comments:
Reference: HP:0000194
Genes and Diseases:
 
       Child Nodes:
........expandTriangular-shaped open mouth (HP:0200096) help

 Sister Nodes: 
..expandAsymmetry of the mouth (HP:0009941) help
..expandDownturned corners of mouth (HP:0002714) help
..expandPursed lips (HP:0000205) help
..expandTransverse facial cleft (HP:0100731) help
..expandTriangular mouth (HP:0000207) help
..expandUpturned corners of mouth (HP:0010805) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000194HP:0000194Open mouth0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0000194HP:0000194Open mouth0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000194HP:0000194Open mouth0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0000194HP:0000194Open mouth0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0000194HP:0000194Open mouth0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000194HP:0000194Open mouth0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0000194HP:0000194Open mouth0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000194HP:0000194Open mouth0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0000194HP:0000194Open mouth0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000194HP:0000194Open mouth0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0000194HP:0000194Open mouth0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000194HP:0000194Open mouth0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000194HP:0000194Open mouth0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000194HP:0000194Open mouth0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0000194HP:0000194Open mouth0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0000194HP:0000194Open mouth0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000194HP:0000194Open mouth0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000194HP:0000194Open mouth0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000194HP:0000194Open mouth0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0000194HP:0000194Open mouth0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000194HP:0000194Open mouth0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0000194HP:0000194Open mouth0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0000194HP:0000194Open mouth0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0000194HP:0000194Open mouth0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0000194HP:0000194Open mouth0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0000194HP:0000194Open mouth0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0000194HP:0000194Open mouth0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000194HP:0000194Open mouth0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000194HP:0000194Open mouth0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0000194HP:0000194Open mouth0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D37
HP:0000194HP:0000194Open mouth0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000194HP:0000194Open mouth0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000194HP:0000194Open mouth0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0000194HP:0000194Open mouth0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000194HP:0000194Open mouth0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0000194HP:0000194Open mouth0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000194HP:0000194Open mouth0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000194HP:0000194Open mouth0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features.184
HP:0000194HP:0000194Open mouth0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000194HP:0000194Open mouth0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0000194HP:0000194Open mouth0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000194HP:0000194Open mouth0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000194HP:0000194Open mouth0H4C5 CL E G H83674790OMIM:619950
HP:0000194HP:0000194Open mouth0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0000194HP:0000194Open mouth0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0000194HP:0000194Open mouth0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0000194HP:0000194Open mouth0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000194HP:0000194Open mouth0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0000194HP:0000194Open mouth0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 21.42
HP:0000194HP:0000194Open mouth0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000194HP:0000194Open mouth0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000194HP:0000194Open mouth0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000194HP:0000194Open mouth0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0000194HP:0000194Open mouth0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000194HP:0000194Open mouth0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0000194HP:0000194Open mouth0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0000194HP:0000194Open mouth0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040281 - Very frequent3
HP:0000194HP:0000194Open mouth0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0000194HP:0000194Open mouth0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0000194HP:0000194Open mouth0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000194HP:0000194Open mouth0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0000194HP:0000194Open mouth0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000194HP:0000194Open mouth0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0000194HP:0000194Open mouth0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000194HP:0000194Open mouth0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0000194HP:0000194Open mouth0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000194HP:0000194Open mouth0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000194HP:0000194Open mouth0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0000194HP:0000194Open mouth0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000194HP:0000194Open mouth0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040283 - Occasional132
HP:0000194HP:0000194Open mouth0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000194HP:0000194Open mouth0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000194HP:0000194Open mouth0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0000194HP:0000194Open mouth0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000194HP:0000194Open mouth0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000194HP:0000194Open mouth0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000194HP:0000194Open mouth0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000194HP:0000194Open mouth0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040282 - Frequent40
HP:0000194HP:0000194Open mouth0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000194HP:0000194Open mouth0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000194HP:0000194Open mouth0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000194HP:0000194Open mouth0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000194HP:0000194Open mouth0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0000194HP:0000194Open mouth0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000194HP:0000194Open mouth0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000194HP:0000194Open mouth0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000194HP:0000194Open mouth0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000194HP:0000194Open mouth0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0000194HP:0000194Open mouth0PDZD8 CL E G H11898726974OMIM:620021
HP:0000194HP:0000194Open mouth0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000194HP:0000194Open mouth0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000194HP:0000194Open mouth0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000194HP:0000194Open mouth0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0000194HP:0000194Open mouth0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000194HP:0000194Open mouth0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000194HP:0000194Open mouth0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0000194HP:0000194Open mouth0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0000194HP:0000194Open mouth0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent13
HP:0000194HP:0000194Open mouth0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000194HP:0000194Open mouth0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0000194HP:0000194Open mouth0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0000194HP:0000194Open mouth0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0000194HP:0000194Open mouth0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 48.3
HP:0000194HP:0000194Open mouth0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0000194HP:0000194Open mouth0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000194HP:0000194Open mouth0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0000194HP:0000194Open mouth0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000194HP:0000194Open mouth0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0000194HP:0000194Open mouth0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000194HP:0000194Open mouth0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000194HP:0000194Open mouth0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000194HP:0000194Open mouth0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000194HP:0000194Open mouth0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000194HP:0000194Open mouth0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0000194HP:0000194Open mouth0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0000194HP:0000194Open mouth0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000194HP:0000194Open mouth0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0000194HP:0000194Open mouth0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0000194HP:0000194Open mouth0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0000194HP:0000194Open mouth0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0000194HP:0000194Open mouth0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0000194HP:0000194Open mouth0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000194HP:0000194Open mouth0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0000194HP:0000194Open mouth0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000194HP:0000194Open mouth0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000194HP:0000194Open mouth0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000194HP:0000194Open mouth0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000194HP:0000194Open mouth0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000194HP:0000194Open mouth0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040282 - Frequent66
HP:0000194HP:0000194Open mouth0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0000194HP:0000194Open mouth0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0000194HP:0000194Open mouth0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0000194HP:0000194Open mouth0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000194HP:0000194Open mouth0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0000194HP:0000194Open mouth0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0000194HP:0000194Open mouth0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1
HP:0000194HP:0000194Open mouth0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0000194HP:0200096Triangular-shaped open mouth1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000194HP:0200096Triangular-shaped open mouth1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37


Genes (116) :ADAM22 AGO2 AHI1 AKT1 ANKLE2 AP1S2 ASH1L ASXL3 ATN1 ATP6V1B2 ATRX BCAS3 BRAF CCDC174 CCDC88A CHAMP1 CHD8 CLTC CSNK2B DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DIS3L2 DLK1 DPYD DST ECEL1 EIF2S3 ELN ESS2 EXTL3 FAM149B1 FLII FOXP1 GBA1 GFM2 GRIA3 H3-3A H4C5 HNRNPK HOXB1 HRAS IL1RAPL1 INPP5E IQSEC2 KANSL1 KCNH1 KCNJ6 KCNK9 KIF1A KIF7 LAMA2 MAGEL2 MBD5 MED12 MED12L MED13L MEF2C MEG3 MGAT2 MLXIPL MTOR NEXMIF NFIX NGLY1 NKAP NONO NRAS OCRL OGT PAK3 PARS2 PDE4D PDZD8 PIGF PIGN PIGT PLXND1 POGZ POLRMT POMT2 PPP2R1A PPP2R5D PRKAR1A PURA PUS7 RAC1 RAI1 REV3L RPS23 RPS6KA3 RTL1 SETBP1 SIN3A SLC35A2 SLC6A8 SLC9A6 SNRPN SOX11 SOX5 STRADA TBC1D24 TBX1 TCF20 TCF4 TET3 TFE3 TMEM237 TUBB4A UNC80 VPS13B ZEB2 ZNHIT3 ZSWIM6

Diseases (122) :OMIM:617933 OMIM:619149 OMIM:608629 OMIM:176920 OMIM:616681 ORPHA:85329 OMIM:617796 ORPHA:352577 OMIM:618494 ORPHA:79500 OMIM:309580 OMIM:619641 OMIM:115150 OMIM:616816 OMIM:617507 OMIM:616579 OMIM:615032 OMIM:617854 OMIM:618732 ORPHA:819 OMIM:617281 OMIM:192430 ORPHA:2849 OMIM:267000 ORPHA:254528 ORPHA:1675 OMIM:614653 OMIM:615065 OMIM:300148 OMIM:194050 ORPHA:508533 OMIM:618763 ORPHA:391372 OMIM:613670 OMIM:608013 ORPHA:565624 ORPHA:364028 OMIM:619720 OMIM:619950 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:614744 OMIM:137550 OMIM:300143 OMIM:213300 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:420561 OMIM:614098 ORPHA:435628 ORPHA:166108 ORPHA:2836 OMIM:200990 ORPHA:258 OMIM:615547 ORPHA:228402 OMIM:156200 ORPHA:93932 OMIM:309520 OMIM:618872 ORPHA:369891 OMIM:616789 ORPHA:228384 OMIM:212066 ORPHA:79329 ORPHA:457485 OMIM:616638 OMIM:300912 ORPHA:561 OMIM:615273 OMIM:301039 ORPHA:466791 OMIM:300967 ORPHA:534 OMIM:300997 OMIM:300558 OMIM:618437 ORPHA:950 OMIM:620021 OMIM:619356 OMIM:614080 OMIM:615398 ORPHA:570 ORPHA:468678 OMIM:619743 OMIM:613156 OMIM:616362 ORPHA:457284 OMIM:616355 OMIM:616158 OMIM:618342 OMIM:617751 ORPHA:500159 OMIM:617412 ORPHA:192 OMIM:303600 OMIM:616078 OMIM:613406 OMIM:300896 ORPHA:52503 OMIM:300243 ORPHA:177907 OMIM:615866 OMIM:616803 OMIM:611087 ORPHA:500533 OMIM:220500 OMIM:618430 OMIM:610954 OMIM:618798 OMIM:301066 OMIM:614424 ORPHA:98805 OMIM:616801 OMIM:216550 ORPHA:193 ORPHA:261552 ORPHA:261537 OMIM:260565 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.