Search Ontology:
Human Disease

hereditary spastic paraplegia 85

Term ID
DOID:0112345
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 the RNF170 gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/31636353/
References
Ontology
Human Disease   ( DOID:0112345 )
Relationships
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Genes Involved
Zebrafish Models