About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory