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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.
Term:dystonia, DOPA-responsive
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Accession:DOID:0060963 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition: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 gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. (DO)
Synonyms:exact_synonym: Autosomal dominant Segawa syndrome;   DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT;   DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION;   DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION;   GTPCH1-deficient DRD;   GTPCH1-deficient dopa-responsive dystonia;   HPD with marked diurnal fluctuation
 xref: ICD10:G24.1;   MIM:128230;   MONDO:0016812;   ORDO:98808
 replaced_by: DOID:0090043


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