| Metadata | |
|---|---|
| ID | DOID:0090057 |
| Name | X-linked dystonia-parkinsonism |
| Definition | A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. https://www.omim.org/entry/314250, https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a X-linked recessive disease is_a focal dystonia |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |