Dystonia 32
Disease ID: disease_node_17271
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| Dbxref | MIM:619637 |
|---|---|
| Subclassof | DOID_543, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DYT32 |
| Doid Label | dystonia 32 |
| Doid Description | A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17271 |
| Doid Id | DOID_0060939 |
| Label | Dystonia 32 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease)