Search Ontology:
Human Disease
X-linked dystonia-parkinsonism
- Term ID
- DOID:0090057
- Synonyms
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- 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. (2)
- References
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- GARD:10533
- ICD10CM:G24.1
- MIM:314250
- ORDO:53351
- Ontology
- Human Disease ( DOID:0090057 )
- is a type of
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Genes Involved
Zebrafish Models