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Echinobase
Summary Literature (0)
DOID:0090043 - dopa-responsive dystonia

Disease Ontology 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.

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

Echinobase Genes : gch1


MIM:
MIM:128230 - dystonia, dopa-responsive; drd

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), dystonia (is_a)