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Disease Ontology Browser
dystonia 5 (DOID:0090043)
Alliance: disease page
Alt IDs: OMIM:128230, ICD10CM:G24.1, ORDO:98808
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory