| Metadata | |
|---|---|
| ID | DOID:0060730 |
| Name | torsion dystonia 1 |
| Definition | A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/11912106, https://www.ncbi.nlm.nih.gov/pubmed/9288096 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
dystonia musculorum deformans [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a generalized dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |