Search Ontology:
Human Disease

hereditary spastic paraplegia 83

Term ID
DOID:0112346
Synonyms
  • spastic paraplegia 83 autosomal recessive
  • SPG83
Definition
A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/32707086/
References
Ontology
Human Disease   ( DOID:0112346 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models