| Metadata | |
|---|---|
| ID | DOID:0090051 |
| Name | dystonia 23 |
| Definition | A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/25296916, https://www.omim.org/entry/614860 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a focal dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |