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Summary Literature (0)
DOID:0090057 - X-linked dystonia-parkinsonism


Disease Ontology Definition:A focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1.

Synonyms:

Xenbase Genes : taf1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010747 - X-linked dystonia-parkinsonism

OMIM:
OMIM:314250 - DYSTONIA 3, TORSION, X-LINKED; DYT3

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

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