Hereditary Spastic Paraplegia 85
Disease ID: disease_node_16621
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| Dbxref | MIM:619686 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG85, spastic paraplegia 85 autosomal recessive |
| Doid Label | hereditary spastic paraplegia 85 |
| Doid Description | A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16621 |
| Doid Id | DOID_0112345 |
| Label | Hereditary Spastic Paraplegia 85 |
- 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)