Hereditary Spastic Paraplegia 50
Disease ID: disease_node_16669
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| Dbxref | MIM:612936, ORDO:280763 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | AP-4 deficiency syndrome, AP-4-Associated Hereditary Spastic Paraplegia, SPG50, adaptor protein complex 4 deficiency, autosomal recessive spastic paraplegia 50 |
| Doid Label | hereditary spastic paraplegia 50 |
| Doid Description | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16669 |
| Doid Id | DOID_0110802 |
| Label | Hereditary Spastic Paraplegia 50 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spastic Paraplegia, Hereditary(ID:disease_node_8225) (Disease)