Search Ontology:
Human Disease
paroxysmal nonkinesigenic dyskinesia 1
- Term ID
- DOID:0090049
- Synonyms
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- Definition
- A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (2)
- References
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- ICD10CM:G24.8
- MIM:118800
- ORDO:98810
- Ontology
- Human Disease ( DOID:0090049 )
- is a type of
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Genes Involved
Zebrafish Models