Dystonia 30
Disease ID: disease_node_17273
Connections displayed (default: 10).
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| Dbxref | MIM:619291 |
|---|---|
| Subclassof | DOID_0050736, DOID_543 |
| Data Source | DOID |
| Synonyms | DYT30 |
| Doid Label | dystonia 30 |
| Doid Description | A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17273 |
| Doid Id | DOID_0060937 |
| Label | Dystonia 30 |
- 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)