Dystonia 9
Disease ID: disease_node_17261
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G24.8, MIM:601042, ORDO:53583, UMLS_CUI:C1832855 |
|---|---|
| Subclassof | DOID_0050736, DOID_0070560, DOID_543 |
| Data Source | DOID |
| Synonyms | paroxysmal choreoathetosis with spasticity |
| Doid Label | dystonia 9 |
| Doid Description | A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. |
| Has Material Basis In | GENO_0000147 |
| Has Disease Driver | CHEBI_30879 |
| Disease Node Id | disease_node_17261 |
| Doid Id | DOID_0090044 |
| Label | Dystonia 9 |
- Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)