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Summary Literature (0)
DOID:0090053 - episodic kinesigenic dyskinesia 1


Disease Ontology Definition:A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in heterozygous mutation in the PRRT2 gene on chromosome 16p11.

Synonyms:

Xenbase Genes : kcna1, prrt2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007494 - obsolete episodic kinesigenic dyskinesia 1

OMIM:
OMIM:128200 - EPISODIC KINESIGENIC DYSKINESIA 1; EKD1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): dystonia (is_a)