Spastic Ataxia 4
Disease ID: disease_node_16067
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| Dbxref | MIM:613672 |
|---|---|
| Subclassof | DOID_0050952, DOID_0050737 |
| Data Source | DOID |
| Doid Label | spastic ataxia 4 |
| Doid Description | A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16067 |
| Doid Id | DOID_0050943 |
| Label | Spastic Ataxia 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)