Hereditary Spastic Paraplegia 70
Disease ID: disease_node_16679
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| Dbxref | MIM:620323 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG70, autosomal recessive spastic paraplegia 70 |
| Doid Label | hereditary spastic paraplegia 70 |
| Doid Description | A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. |
| Existence Starts During | HP_0003593 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16679 |
| Doid Id | DOID_0070454 |
| Label | Hereditary Spastic Paraplegia 70 |
- 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)