OBO ID: DOID:0112345
Term Name: hereditary spastic paraplegia 85 Search Ontology:
Synonyms:
  • spastic paraplegia 85 autosomal recessive
  • SPG85
Definition: A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in RNF170 on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/31636353/
References:
Ontology: Human Disease   (DOID:0112345)
OTHER hereditary spastic paraplegia 85 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNF170 Spastic paraplegia 85, autosomal recessive 619686
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None