Human Phenotype Ontology 
Grandparent Node:
expand
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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000194HP:0000194Open mouth0ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM1342201603709
HP:0000194HP:0000194Open mouth0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000194HP:0000194Open mouth0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0000194HP:0000194Open mouth0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0000194HP:0000194Open mouth0AP1S2 CL E G H890585329ORPHA114204560300629
HP:0000194HP:0000194Open mouth0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000194HP:0000194Open mouth0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000194HP:0000194Open mouth0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM114128033616735
HP:0000194HP:0000194Open mouth0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000194HP:0000194Open mouth0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM114622092118955
HP:0000194HP:0000194Open mouth0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000194HP:0000194Open mouth0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM194319344617278
HP:0000194HP:0000194Open mouth0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM133902845600594
HP:0000194HP:0000194Open mouth0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM133172846601279
HP:0000194HP:0000194Open mouth0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM123812847609030
HP:0000194HP:0000194Open mouth0DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000194HP:0000194Open mouth0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11488128648614184
HP:0000194HP:0000194Open mouth0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM1910171090113810
HP:0000194HP:0000194Open mouth0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000194HP:0000194Open mouth0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000194HP:0000194Open mouth0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM1138216817601755
HP:0000194HP:0000194Open mouth0FLII CL E G H2314819ORPHA121533750600362
HP:0000194HP:0000194Open mouth0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0000194HP:0000194Open mouth0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0000194HP:0000194Open mouth0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0000194HP:0000194Open mouth0HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM1342955173190020
HP:0000194HP:0000194Open mouth0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM1422735996300206
HP:0000194HP:0000194Open mouth0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000194HP:0000194Open mouth0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000194HP:0000194Open mouth0KCNJ6 CL E G H3763435628ORPHA13846267600877
HP:0000194HP:0000194Open mouth0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM13846267600877
HP:0000194HP:0000194Open mouth0KIF1A CL E G H5472836ORPHA1431059888601255
HP:0000194HP:0000194Open mouth0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000194HP:0000194Open mouth0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0000194HP:0000194Open mouth0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000194HP:0000194Open mouth0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0000194HP:0000194Open mouth0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000194HP:0000194Open mouth0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000194HP:0000194Open mouth0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0000194HP:0000194Open mouth0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0000194HP:0000194Open mouth0NFIX CL E G H4784561ORPHA11041547788164005
HP:0000194HP:0000194Open mouth0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0000194HP:0000194Open mouth0NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM1141817989164790
HP:0000194HP:0000194Open mouth0OGT CL E G H8473300997MENTAL RETARDATION, X-LINKED 106300997C4478379OMIM171478127300255
HP:0000194HP:0000194Open mouth0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0000194HP:0000194Open mouth0PDE4D CL E G H5144950ORPHA1452318783600129
HP:0000194HP:0000194Open mouth0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000194HP:0000194Open mouth0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000194HP:0000194Open mouth0PLXND1 CL E G H23129570ORPHA181049107604282
HP:0000194HP:0000194Open mouth0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000194HP:0000194Open mouth0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000194HP:0000194Open mouth0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0000194HP:0000194Open mouth0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000194HP:0000194Open mouth0PRKAR1A CL E G H5573950ORPHA11884519388188830
HP:0000194HP:0000194Open mouth0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM1482289701600473
HP:0000194HP:0000194Open mouth0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000194HP:0000194Open mouth0REV3L CL E G H5980570ORPHA191249968602776
HP:0000194HP:0000194Open mouth0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000194HP:0000194Open mouth0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000194HP:0000194Open mouth0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000194HP:0000194Open mouth0SLC16A2 CL E G H656759ORPHA18825710923300095
HP:0000194HP:0000194Open mouth0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0000194HP:0000194Open mouth0SLC6A8 CL E G H653552503ORPHA113954211055300036
HP:0000194HP:0000194Open mouth0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000194HP:0000194Open mouth0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0000194HP:0000194Open mouth0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000194HP:0000194Open mouth0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM1512930172608626
HP:0000194HP:0000194Open mouth0TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000194HP:0000194Open mouth0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM18255311592602054
HP:0000194HP:0000194Open mouth0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000194HP:0000194Open mouth0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000194HP:0000194Open mouth0TUBB4A CL E G H1038298805ORPHA14213920774602662
HP:0000194HP:0000194Open mouth0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0000194HP:0000194Open mouth0VPS13B CL E G H157680193ORPHA121316062183607817
HP:0000194HP:0000194Open mouth0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000194HP:0000194Open mouth0ZNHIT3 CL E G H93262836ORPHA119912309604500
HP:0000194HP:0000194Open mouth0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
HP:0000194HP:0000194Open mouth0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM126229316615951
HP:0000194HP:0000194Open mouth1ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM1342201603709
HP:0000194HP:0000194Open mouth1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000194HP:0000194Open mouth1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0000194HP:0000194Open mouth1ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0000194HP:0000194Open mouth1AP1S2 CL E G H890585329ORPHA114204560300629
HP:0000194HP:0000194Open mouth1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000194HP:0000194Open mouth1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000194HP:0000194Open mouth1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM114128033616735
HP:0000194HP:0000194Open mouth1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000194HP:0000194Open mouth1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM114622092118955
HP:0000194HP:0000194Open mouth1DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000194HP:0000194Open mouth1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM194319344617278
HP:0000194HP:0000194Open mouth1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM133902845600594
HP:0000194HP:0000194Open mouth1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM133172846601279
HP:0000194HP:0000194Open mouth1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM123812847609030
HP:0000194HP:0000194Open mouth1DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000194HP:0000194Open mouth1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11488128648614184
HP:0000194HP:0000194Open mouth1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM1910171090113810
HP:0000194HP:0000194Open mouth1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000194HP:0000194Open mouth1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000194HP:0000194Open mouth1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM1138216817601755
HP:0000194HP:0000194Open mouth1FLII CL E G H2314819ORPHA121533750600362
HP:0000194HP:0000194Open mouth1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0000194HP:0000194Open mouth1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0000194HP:0000194Open mouth1HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0000194HP:0000194Open mouth1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM1342955173190020
HP:0000194HP:0000194Open mouth1IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM1422735996300206
HP:0000194HP:0000194Open mouth1IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000194HP:0000194Open mouth1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000194HP:0000194Open mouth1KCNJ6 CL E G H3763435628ORPHA13846267600877
HP:0000194HP:0000194Open mouth1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM13846267600877
HP:0000194HP:0000194Open mouth1KIF1A CL E G H5472836ORPHA1431059888601255
HP:0000194HP:0000194Open mouth1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000194HP:0000194Open mouth1MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0000194HP:0000194Open mouth1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000194HP:0000194Open mouth1MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0000194HP:0000194Open mouth1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000194HP:0000194Open mouth1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000194HP:0000194Open mouth1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0000194HP:0000194Open mouth1MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0000194HP:0000194Open mouth1NFIX CL E G H4784561ORPHA11041547788164005
HP:0000194HP:0000194Open mouth1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0000194HP:0000194Open mouth1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM1141817989164790
HP:0000194HP:0000194Open mouth1OGT CL E G H8473300997MENTAL RETARDATION, X-LINKED 106300997C4478379OMIM171478127300255
HP:0000194HP:0000194Open mouth1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0000194HP:0000194Open mouth1PDE4D CL E G H5144950ORPHA1452318783600129
HP:0000194HP:0000194Open mouth1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000194HP:0000194Open mouth1PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000194HP:0000194Open mouth1PLXND1 CL E G H23129570ORPHA181049107604282
HP:0000194HP:0000194Open mouth1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000194HP:0000194Open mouth1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000194HP:0000194Open mouth1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0000194HP:0000194Open mouth1PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000194HP:0000194Open mouth1PRKAR1A CL E G H5573950ORPHA11884519388188830
HP:0000194HP:0000194Open mouth1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM1482289701600473
HP:0000194HP:0000194Open mouth1RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000194HP:0000194Open mouth1REV3L CL E G H5980570ORPHA191249968602776
HP:0000194HP:0000194Open mouth1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000194HP:0000194Open mouth1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000194HP:0000194Open mouth1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000194HP:0000194Open mouth1SLC16A2 CL E G H656759ORPHA18825710923300095
HP:0000194HP:0000194Open mouth1SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0000194HP:0000194Open mouth1SLC6A8 CL E G H653552503ORPHA113954211055300036
HP:0000194HP:0000194Open mouth1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000194HP:0000194Open mouth1SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0000194HP:0000194Open mouth1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000194HP:0000194Open mouth1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM1512930172608626
HP:0000194HP:0000194Open mouth1TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000194HP:0000194Open mouth1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM18255311592602054
HP:0000194HP:0000194Open mouth1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000194HP:0000194Open mouth1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000194HP:0000194Open mouth1TUBB4A CL E G H1038298805ORPHA14213920774602662
HP:0000194HP:0000194Open mouth1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0000194HP:0000194Open mouth1VPS13B CL E G H157680193ORPHA121316062183607817
HP:0000194HP:0000194Open mouth1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000194HP:0000194Open mouth1ZNHIT3 CL E G H93262836ORPHA119912309604500
HP:0000194HP:0000194Open mouth1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
HP:0000194HP:0000194Open mouth1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM126229316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000194HP:0000194Open mouth0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000194HP:0000194Open mouth0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA038014996482156225
HP:0000194HP:0000194Open mouth0MEF2C CL E G H4208228384ORPHA0892456996600662
HP:0000194HP:0000194Open mouth0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0000194HP:0000194Open mouth0UBA1 CL E G H73171145ORPHA0535112469314370
HP:0000194HP:0000194Open mouth1KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000194HP:0000194Open mouth1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA038014996482156225
HP:0000194HP:0000194Open mouth1MEF2C CL E G H4208228384ORPHA0892456996600662
HP:0000194HP:0000194Open mouth1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0000194HP:0000194Open mouth1UBA1 CL E G H73171145ORPHA0535112469314370


Genes (78) :ADAM22 AHI1 AKT1 ANKLE2 AP1S2 ATRX BRAF CCDC174 CHAMP1 CLTC DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DIS3L2 DST EIF2S3 ELN ESS2 FLII FOXP1 GBA HNRNPK HRAS IL1RAPL1 INPP5E IQSEC2 KANSL1 KCNJ6 KIF1A KIF7 LAMA2 MAGEL2 MBD5 MED12 MED13L MEF2C MGAT2 MLXIPL MTOR NFIX NONO NRAS OCRL OGT PAK3 PDE4D PIGN PIGT PLXND1 POGZ POMT2 PPP2R1A PPP2R5D PRKAR1A PURA RAI1 REV3L RPS6KA3 SIN3A SLC16A2 SLC35A2 SLC6A8 SLC9A6 SOX11 SOX5 STRADA TBC1D24 TBX1 TCF4 TMEM237 TUBB4A UBA1 UNC80 VPS13B ZNHIT3 ZSWIM6

Diseases (72) :617933 608629 176920 616681 85329 309580 115150 616816 616579 617854 819 617281 192430 2849 267000 614653 300148 194050 613670 608013 616580 137550 300143 610443 435628 614098 2836 200990 258 615547 228402 156200 309520 616789 228384 212066 616638 561 300967 534 300997 300558 950 614080 615398 570 616364 613156 616362 616355 616158 303600 192 613406 59 300896 52503 300243 615866 616803 611087 79500 610954 614424 98805 1145 616801 193 216550 260565 617865 213300
 

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