Spastic Ataxia 2
Disease ID: disease_node_16069
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| Dbxref | MIM:611302 |
|---|---|
| Subclassof | DOID_0050952, DOID_0050737 |
| Data Source | DOID |
| Doid Label | spastic ataxia 2 |
| Doid Description | A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16069 |
| Doid Id | DOID_0050941 |
| Label | Spastic Ataxia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)