Hereditary Spastic Paraplegia 18
Disease ID: disease_node_16637
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| Dbxref | GARD:4922, ICD10CM:G11.4, MIM:611225, ORDO:209951 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IDMDC, SPG18, autosomal recessive spastic paraplegia 18, autosomal recessive spastic paraplegia type 18, intellectual disability, motor dysfunction and joint contractures |
| Doid Label | hereditary spastic paraplegia 18 |
| Doid Description | A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16637 |
| Doid Id | DOID_0110771 |
| Label | Hereditary Spastic Paraplegia 18 |
- Outgoing r'ship
SUBCLASS_OFto/from Spastic Paraplegia, Hereditary(ID:disease_node_8225) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)