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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:
Echinobase Genes
:
pnkd
| MIM:118800 - paroxysmal nonkinesigenic dyskinesia 1; pnkd1 |
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)