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 generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. (DO)
Synonyms:
exact_synonym:
DOPA-responsive dystonia with or without hyperphenylalaninemia; DOPA-responsive dystonia, autosomal dominant; DRD; DYT5; GTPCH1-deficient DRD; GTPCH1-deficient dopa-responsive dystonia; HPD with marked diurnal fluctuation; Segawa syndrome, autosomal dominant; autosomal dominant Segawa syndrome; dystonia 5; dystonia 5, Dopa-responsive type; dystonia, DOPA-responsive; dystonia-parkinsonism with diurnal fluctuation; hereditary progressive dystonia with marked diurnal fluctuation; progressive dystonia with diurnal variation
CTD Direct Evidence: marker/mechanism DNA:nonsense mutation 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 | ClinVar Annotator: match by term: Dystonia-Parkinsonism with diurnal fluctuation
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