Myoclonic Dystonia 26
Disease ID: disease_node_14352
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| Dbxref | MIM:616398 |
|---|---|
| Subclassof | DOID_0050736, DOID_0090033 |
| Data Source | DOID |
| Doid Label | myoclonic dystonia 26 |
| Doid Description | A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predomit involvement of the craniocervical regions, and has_material_basis_in autosomal domit inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14352 |
| Doid Id | DOID_0090036 |
| Label | Myoclonic Dystonia 26 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)