Spastic Ataxia 5
Disease ID: disease_node_16066
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| Dbxref | MIM:614487 |
|---|---|
| Subclassof | DOID_0050952, DOID_0050737 |
| Data Source | DOID |
| Doid Label | spastic ataxia 5 |
| Doid Description | A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16066 |
| Doid Id | DOID_0050944 |
| Label | Spastic Ataxia 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)