Myoclonic Dystonia 34
Disease ID: disease_node_17266
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| Dbxref | MIM:619724 |
|---|---|
| Subclassof | DOID_0050736, DOID_543 |
| Data Source | DOID |
| Doid Label | myoclonic dystonia 34 |
| Doid Description | A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17266 |
| Doid Id | DOID_0060957 |
| Label | Myoclonic Dystonia 34 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease)