OBO ID: DOID:0090044
Term Name: dystonia 9 Search Ontology:
Synonyms:
Definition: A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (3)
References:
Ontology: Human Disease   ( DOID:0090044 )
Relationships
is a type of:
OTHER dystonia 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC2A1 Dystonia 9 601042
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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