Hereditary Spastic Paraplegia 79B
Disease ID: disease_node_16622
Connections displayed (default: 10).
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| Dbxref | MIM:615491, ORDO:352654 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG79B, autosomal recessive spastic paraplegia 79B, early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, spastic paraplegia 79 autosomal recessive |
| Doid Label | hereditary spastic paraplegia 79B |
| Doid Description | A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. |
| Existence Starts During | HP_0003621 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16622 |
| Doid Id | DOID_0112344 |
| Label | Hereditary Spastic Paraplegia 79B |
- 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)