Search Ontology:
Human Disease

hereditary spastic paraplegia 79A

Term ID
DOID:0070455
Synonyms
  • autosomal dominant spastic paraplegia 79A
  • SPG79A
Definition
A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. https://pubmed.ncbi.nlm.nih.gov/35986737/
References
Ontology
Human Disease   ( DOID:0070455 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models