X-Linked Dystonia-Parkinsonism
Disease ID: disease_node_14337
Connections displayed (default: 10).
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| Dbxref | GARD:10533, ICD10CM:G24.1, MIM:314250, ORDO:53351 |
|---|---|
| Subclassof | DOID_0080012, DOID_0050836 |
| Data Source | DOID |
| Doid Label | X-linked dystonia-parkinsonism |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_14337 |
| Doid Id | DOID_0090057 |
| Label | X-Linked Dystonia-Parkinsonism |
- Outgoing r'ship
SUBCLASS_OFto/from Focal Dystonia(ID:disease_node_14335) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)