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Echinobase
Summary Literature (0)
DOID:0090043 - dystonia 5

Disease Ontology Definition:A dystonia characterized by autosomal dominant inheritance of childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.

Synonyms:

Echinobase Genes : gch1


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

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

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