Hereditary Spastic Paraplegia 80
Disease ID: disease_node_16625
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| Dbxref | MIM:618418 |
|---|---|
| Subclassof | DOID_0050736, DOID_2476 |
| Data Source | DOID |
| Synonyms | SPG80, spastic paraplegia 80 autosomal dominant |
| Doid Label | hereditary spastic paraplegia 80 |
| Doid Description | A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16625 |
| Doid Id | DOID_0112341 |
| Label | Hereditary Spastic Paraplegia 80 |
- 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)