X-linked dystonia-parkinsonism

Summary

DOID:0090057 - X-linked dystonia-parkinsonism

Disease Ontology Definition:A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.

Synonyms:

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

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

MIM:

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

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): focal dystonia (is_a), X-linked recessive disease (is_a)