Dystonia 33
Disease ID: disease_node_17270
Connections displayed (default: 10).
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| Dbxref | MIM:619687 |
|---|---|
| Subclassof | DOID_0050736, DOID_543, DOID_0050737 |
| Data Source | DOID |
| Doid Label | dystonia 33 |
| Doid Description | A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_17270 |
| Doid Id | DOID_0060940 |
| Label | Dystonia 33 |
- 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) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)