OBO ID: DOID:0112346
Term Name: hereditary spastic paraplegia 83 Search Ontology:
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 HPDL on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/32707086/
References:
Ontology: Human Disease   (DOID:0112346)
OTHER hereditary spastic paraplegia 83 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HPDL Spastic paraplegia 83, autosomal recessive 619027
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None