| Metadata | |
|---|---|
| ID | DOID:0090056 |
| Name | dystonia 12 |
| Definition | A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism, https://www.omim.org/entry/128235 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a dystonia |