Hereditary Spastic Paraplegia 17
Disease ID: disease_node_16638
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:4219, ICD10CM:G11.4, MIM:270685, ORDO:100998 |
|---|---|
| Subclassof | DOID_0050736, DOID_2476 |
| Data Source | DOID |
| Synonyms | SPG17, Silver spastic paraplegia syndrome, Silver syndrome, autosomal dominant spastic paraplegia 17, autosomal dominant spastic paraplegia type 17, dHMN5B, distal hereditary motor neuropathy type 5B, spastic paraplegia with amyotrophy of hands and feet, spastic paraplegia-amyotrophy of hands and feet |
| Doid Label | hereditary spastic paraplegia 17 |
| Doid Description | A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16638 |
| Doid Id | DOID_0110770 |
| Label | Hereditary Spastic Paraplegia 17 |
- 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)