| Metadata | |
|---|---|
| ID | DOID:0090043 |
| Name | dystonia 5 |
| 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. https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia, https://www.ncbi.nlm.nih.gov/books/NBK1508/, https://www.omim.org/entry/128230 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a dystonia |