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Summary Literature (0)
DOID:0090049 - paroxysmal nonkinesigenic dyskinesia 1

Disease Ontology 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.

Synonyms:

Xenbase Genes : pnkd, prrt2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007326 - obsolete paroxysmal nonkinesigenic dyskinesia 1


Other Model Organisms: Alliance, 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)