Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dyskinesia (HP:0100660)help
..Starting node
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Orofacial dyskinesia (HP:0002310)help
Term ID: 2310
Name: Orofacial dyskinesia
Synonym: Orofacial dyskinesias
Definition:
Comments:
Reference: HP:0002310
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandExtrapyramidal dyskinesia (HP:0007308) help
..expandTardive dyskinesia (HP:0040141) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002310HP:0002310Orofacial dyskinesia0ADCY5 CL E G H111324588ORPHA1293236600293
HP:0002310HP:0002310Orofacial dyskinesia0ADCY5 CL E G H111324588ORPHA1365236600293
HP:0002310HP:0002310Orofacial dyskinesia0ATXN7 CL E G H631494147ORPHA13910560607640
HP:0002310HP:0002310Orofacial dyskinesia0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0002310HP:0002310Orofacial dyskinesia0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13910560607640
HP:0002310HP:0002310Orofacial dyskinesia0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13710560607640
HP:0002310HP:0002310Orofacial dyskinesia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0002310HP:0002310Orofacial dyskinesia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0002310HP:0002310Orofacial dyskinesia0COQ2 CL E G H2723598933ORPHA113725223609825
HP:0002310HP:0002310Orofacial dyskinesia0COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002310HP:0002310Orofacial dyskinesia0COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002310HP:0002310Orofacial dyskinesia0COQ2 CL E G H2723598933ORPHA117125223609825
HP:0002310HP:0002310Orofacial dyskinesia0FTL CL E G H2512157846ORPHA11383999134790
HP:0002310HP:0002310Orofacial dyskinesia0FTL CL E G H2512157846ORPHA11093999134790
HP:0002310HP:0002310Orofacial dyskinesia0MICU1 CL E G H10367401768ORPHA11011530605084
HP:0002310HP:0002310Orofacial dyskinesia0MICU1 CL E G H10367401768ORPHA11351530605084
HP:0002310HP:0002310Orofacial dyskinesia0MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002310HP:0002310Orofacial dyskinesia0MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002310HP:0002310Orofacial dyskinesia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM126315894606157
HP:0002310HP:0002310Orofacial dyskinesia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM133115894606157
HP:0002310HP:0002310Orofacial dyskinesia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM133115894606157
HP:0002310HP:0002310Orofacial dyskinesia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM126315894606157
HP:0002310HP:0002310Orofacial dyskinesia0PDE10A CL E G H10846494526ORPHA11138772610652
HP:0002310HP:0002310Orofacial dyskinesia0PDE10A CL E G H10846494526ORPHA1898772610652
HP:0002310HP:0002310Orofacial dyskinesia0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0002310HP:0002310Orofacial dyskinesia0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0002310HP:0002310Orofacial dyskinesia0PRKRA CL E G H8575210571ORPHA11419438603424
HP:0002310HP:0002310Orofacial dyskinesia0PRKRA CL E G H8575210571ORPHA11519438603424
HP:0002310HP:0002310Orofacial dyskinesia0PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM159730500614386
HP:0002310HP:0002310Orofacial dyskinesia0PRRT2 CL E G H112476128200Dystonia 10128200C1868682OMIM165930500614386
HP:0002310HP:0002310Orofacial dyskinesia0SLC18A2 CL E G H6571352649ORPHA110310935193001
HP:0002310HP:0002310Orofacial dyskinesia0SLC18A2 CL E G H6571352649ORPHA18010935193001
HP:0002310HP:0002310Orofacial dyskinesia0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19711021605634
HP:0002310HP:0002310Orofacial dyskinesia0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19111021605634
HP:0002310HP:0002310Orofacial dyskinesia0SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002310HP:0002310Orofacial dyskinesia0SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002310HP:0002310Orofacial dyskinesia0VPS13A CL E G H232302388ORPHA112461908605978
HP:0002310HP:0002310Orofacial dyskinesia0VPS13A CL E G H232302388ORPHA113741908605978
HP:0002310HP:0002310Orofacial dyskinesia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM112461908605978
HP:0002310HP:0002310Orofacial dyskinesia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM113741908605978
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002310HP:0002310Orofacial dyskinesia0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM01903671601515
HP:0002310HP:0002310Orofacial dyskinesia0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM01873671601515
HP:0002310HP:0002310Orofacial dyskinesia0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01011530605084
HP:0002310HP:0002310Orofacial dyskinesia0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01351530605084


Genes (16) :ADCY5 ATXN7 CHMP2B COQ2 FGF14 FTL MICU1 MRE11 PANK2 PDE10A PRKRA PRRT2 SLC18A2 SLC35A1 SLC6A3 VPS13A

Diseases (22) :324588 94147 164500 600795 227510 98933 609307 157846 401768 615673 251347 607236 234200 494526 616921 210571 128200 352649 603585 238455 2388 200150
 

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