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Metadata
DOID DOID:0090057
Name X-linked dystonia-parkinsonism
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.
Xrefs

GARD:10533

ICD10CM:G24.1

OMIM:314250

ORDO:53351

Relationships

is_a focal dystonia

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