Hereditary Spastic Paraplegia 78
Disease ID: disease_node_16618
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| Dbxref | MIM:617225, ORDO:513436 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG78, spastic paraplegia 78 autosomal recessive |
| Doid Label | hereditary spastic paraplegia 78 |
| Doid Description | A hereditary spastic paraplegia characterized predomitly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16618 |
| Doid Id | DOID_0112348 |
| Label | Hereditary Spastic Paraplegia 78 |
- 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)