Dystonia 27
Disease ID: disease_node_17276
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G24.1, MIM:616411, ORDO:464440 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050838 |
| Data Source | DOID |
| Doid Label | dystonia 27 |
| Doid Description | A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17276 |
| Doid Id | DOID_0090050 |
| Label | Dystonia 27 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Segmental Dystonia(ID:disease_node_17275) (Disease)