Search Ontology:
Human Disease
dystonia 5
- Term ID
- DOID:0090043
- Synonyms
-
- Definition
- A dystonia characterized by 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 autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. (3)
- References
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- ICD10CM:G24.1
- OMIM:128230
- ORDO:98808
- Ontology
- Human Disease ( DOID:0090043 )
- is a type of
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