Search Ontology:
Human Disease
hereditary spastic paraplegia 85
- Term ID
- DOID:0112345
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models