Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Myoclonus (HP:0001336)help
..Starting node
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Chin myoclonus (HP:0012462)help
Term ID: 12462
Name: Chin myoclonus
Synonym: Chin spasms; Geniospasm
Definition: Involuntary and irregular twitches of the chin.
Comments:
Reference: HP:0012462
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCortical myoclonus (HP:0040148) help
..expandErratic myoclonus (HP:0025357) help
..expandEyelid myoclonus (HP:0025097) help
..expandLimb myoclonus (HP:0045084) help
..expandMorning myoclonic jerks (HP:0007000) help
..expandMyoclonic spasms (HP:0003739) help
..expandPalatal tremor (HP:0010530) help
..expandSleep myoclonus (HP:0012323) help
..expandSpinal myoclonus (HP:0010531) 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:0012462HP:0012462Chin myoclonus0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106


Genes (1) :KCTD7

Diseases (1) :ORPHA:263516
 

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