Hereditary Spastic Paraplegia 79A
Disease ID: disease_node_16678
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| Dbxref | MIM:620221 |
|---|---|
| Subclassof | DOID_0050736, DOID_2476 |
| Data Source | DOID |
| Synonyms | SPG79A, autosomal dominant spastic paraplegia 79A |
| Doid Label | hereditary spastic paraplegia 79A |
| Doid Description | A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16678 |
| Doid Id | DOID_0070455 |
| Label | Hereditary Spastic Paraplegia 79A |
- Outgoing r'ship
SUBCLASS_OFto/from Spastic Paraplegia, Hereditary(ID:disease_node_8225) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)