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GENE - TERM ANNOTATION REPORT

RGD ID: 1354208
Species: Homo sapiens
RGD Object: Gene
Symbol: PCDH19
Name: protocadherin 19
Acc ID: HP:0002072
Term: Chorea
Definition: Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:20589866
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
PCDH19 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Choreiform movements

PMID:18414213 PMID:25741868 PMID:28492532
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