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Disease Ontology Browser
dopa-responsive dystonia (DOID:0090043)
Alliance: disease page
Synonyms: Autosomal dominant Segawa syndrome; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT; dystonia 5; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT; DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION; GTPCH1-deficient dopa-responsive dystonia; GTPCH1-deficient DRD; Hereditary progressive dystonia with marked diurnal fluctuation; HPD with marked diurnal fluctuation
Alt IDs: OMIM:128230, ICD10CM:G24.1, ORDO:98808
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 GCH1 gene on chromosome 14q13.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory