Hereditary Spastic Paraplegia 81
Disease ID: disease_node_16617
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| Dbxref | MIM:618768, ORDO:506353 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG81, autosomal recessive complex SPG due to Kennedy pathway dysfunction, autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction, spastic paraplegia 81 autosomal recessive |
| Doid Label | hereditary spastic paraplegia 81 |
| Doid Description | A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16617 |
| Doid Id | DOID_0112349 |
| Label | Hereditary Spastic Paraplegia 81 |
- 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)