RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
DOPA-responsive dystonia; DOPA-responsive dystonia with or without hyperphenylalaninemia; DOPA-responsive dystonia, autosomal dominant; DRD; DYT5; Segawa syndrome, autosomal dominant; dystonia 5, Dopa-responsive type; dystonia-parkinsonism with diurnal fluctuation; hereditary progressive dystonia with marked diurnal fluctuation; progressive dystonia with diurnal variation
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia