Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Abnormality of extrapyramidal motor function (HP:0002071)help
Parent Node:
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Dyskinesia (HP:0100660)help
..Starting node
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Extrapyramidal dyskinesia (HP:0007308)help
Term ID: 7308
Name: Extrapyramidal dyskinesia
Synonym:
Definition:
Comments:
Reference: HP:0007308
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOrofacial dyskinesia (HP:0002310) help
..expandTardive dyskinesia (HP:0040141) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007308HP:0007308Extrapyramidal dyskinesia0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116128337614260
HP:0007308HP:0007308Extrapyramidal dyskinesia0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM116528337614260
HP:0007308HP:0007308Extrapyramidal dyskinesia0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11413013613326
HP:0007308HP:0007308Extrapyramidal dyskinesia0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM11153013613326
HP:0007308HP:0007308Extrapyramidal dyskinesia0SLC2A1 CL E G H651371277ORPHA167211005138140
HP:0007308HP:0007308Extrapyramidal dyskinesia0SLC2A1 CL E G H651371277ORPHA175311005138140
HP:0007308HP:0007308Extrapyramidal dyskinesia0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0007308HP:0007308Extrapyramidal dyskinesia0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0007308HP:0007308Extrapyramidal dyskinesia0TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM122027561608755
HP:0007308HP:0007308Extrapyramidal dyskinesia0TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM126527561608755
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (6) :C9ORF72 C9orf72 DPYS SLC2A1 TSEN2 TSEN54

Diseases (5) :105550 222748 71277 612389 277470
 

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