Search Ontology:
Human Disease

dopa-responsive dystonia

Term ID
DOID:0090043
Synonyms
  • dystonia 5
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. (3)
References
Ontology
Human Disease   ( DOID:0090043 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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