OBO ID: DOID:0090043
Term Name: dystonia 5 Search Ontology:
Synonyms:
Definition: A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. (3)
References:
Ontology: Human Disease   (DOID:0090043)
OTHER dystonia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GCH1 Dystonia, DOPA-responsive 128230
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None