Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Abnormality of facial musculature (HP:0000301)help
Parent Node:
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Myokymia (HP:0002411)help
..Starting node
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Facial myokymia (HP:0000317)help
Term ID: 317
Name: Facial myokymia
Synonym: Involuntary facial contraction; Involuntary facial quivering
Definition: Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Comments:
Reference: HP:0000317
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEMG: myokymic discharges (HP:0100288) help
..expandEyelid myokymia (HP:0031166) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000317HP:0000317Facial myokymia0ADCY5 CL E G H111324588ORPHA1365236600293
HP:0000317HP:0000317Facial myokymia0ADCY5 CL E G H111324588ORPHA1293236600293
HP:0000317HP:0000317Facial myokymia0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0000317HP:0000317Facial myokymia0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0000317HP:0000317Facial myokymia0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1389305604325
HP:0000317HP:0000317Facial myokymia0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1369305604325
HP:0000317HP:0000317Facial myokymia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0000317HP:0000317Facial myokymia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0000317HP:0000317Facial myokymia0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM156911276604985
HP:0000317HP:0000317Facial myokymia0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM147811276604985
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000317HP:0000317Facial myokymia0ATP13A2 CL E G H23400513436ORPHA060930213610513
HP:0000317HP:0000317Facial myokymia0ATP13A2 CL E G H23400513436ORPHA048730213610513


Genes (5) :ADCY5 ATP13A2 PPP2R2B PRKCG SPTBN2

Diseases (6) :324588 606703 513436 604326 605361 600224
 

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