Hereditary Spastic Paraplegia 84
Disease ID: disease_node_16619
Connections displayed (default: 10).
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| Dbxref | MIM:619621 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG84, spastic paraplegia 84 autosomal recessive |
| Doid Label | hereditary spastic paraplegia 84 |
| Doid Description | A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16619 |
| Doid Id | DOID_0112347 |
| Label | Hereditary Spastic Paraplegia 84 |
- 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)