Hereditary Spastic Paraplegia 48
Disease ID: disease_node_16671
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G11.4, MIM:613647, ORDO:306511 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG48, autosomal recessive spastic paraplegia 48, autosomal recessive spastic paraplegia type 48 |
| Doid Label | hereditary spastic paraplegia 48 |
| Doid Description | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16671 |
| Doid Id | DOID_0110800 |
| Label | Hereditary Spastic Paraplegia 48 |
- 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)