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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:
Echinobase Genes :
MIM: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)