Hereditary Spastic Paraplegia 82
Disease ID: disease_node_16623
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| Dbxref | MIM:618770 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG82, spastic paraplegia 82 autosomal recessive |
| Doid Label | hereditary spastic paraplegia 82 |
| Doid Description | A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16623 |
| Doid Id | DOID_0112343 |
| Label | Hereditary Spastic Paraplegia 82 |
- 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)