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Metadata
ID DOID:0090057
Name X-linked dystonia-parkinsonism
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.
https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism, https://www.omim.org/entry/314250
Xrefs

GARD:10533

ICD10CM:G24.1

OMIM:314250

ORDO:53351

Parent Relationships

is_a X-linked recessive disease

is_a focal dystonia

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