X-linked dystonia-parkinsonism

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Echinobase

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:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:314250 - dystonia 3, torsion, x-linked; dyt3

MIM: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)