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DOID:0090053 - episodic kinesigenic dyskinesia 1
Disease Ontology 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.
Synonyms: Paroxysmal kinesigenic choreoathetosis,
Xenbase Genes
:
kcna1,
prrt2
| MONDO:0007494 - obsolete episodic kinesigenic dyskinesia 1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
dystonia (is_a)