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. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://pubmed.ncbi.nlm.nih.gov/28007905/ ]

Synonyms: autosomal recessive spastic paraplegia 79B early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome SPG79B spastic paraplegia 79 autosomal recessive

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:615491
  • ORDO:352654
Subsets

DO_rare_slim

acronym
SPG79B

has obo namespace

disease_ontology

id

DOID:0112344