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DOID:0090056 - dystonia 12
Disease Ontology Definition:A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.
Synonyms:
Xenbase Genes
:
atp1a3
| MONDO:0007496 - dystonia 12 |
| MIM:128235 - DYSTONIA 12; DYT12 |
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)