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Disease Ontology Browser
episodic kinesigenic dyskinesia 1 (DOID:0090053)
Alliance: disease page
Synonyms: Paroxysmal kinesigenic choreoathetosis
Alt IDs: OMIM:128200, ICD10CM:G24.8, ORDO:98809
Definition: A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory