OBO ID: DOID:0090057
Term Name: X-linked dystonia-parkinsonism Search Ontology:
Synonyms:
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:
Ontology: Human Disease   ( DOID:0090057 )
Relationships
is a type of:
OTHER X-linked dystonia-parkinsonism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TAF1 Dystonia-Parkinsonism, X-linked 314250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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