Dystonia 37, Early-Onset With Striatal Lesions
Disease ID: disease_node_17267
Connections displayed (default: 10).
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| Dbxref | MIM:620427 |
|---|---|
| Subclassof | DOID_543, DOID_0050737 |
| Data Source | DOID |
| Doid Label | dystonia 37, early-onset with striatal lesions |
| Doid Description | A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17267 |
| Doid Id | DOID_0060956 |
| Label | Dystonia 37, Early-Onset With Striatal Lesions |
- Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)