OBO ID: DOID:0110810
Term Name: hereditary spastic paraplegia 5A Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 5A
  • autosomal recessive spastic paraplegia type 5A
  • SPG5A
Definition: A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/18252231
References:
Ontology: Human Disease   (DOID:0110810)
OTHER hereditary spastic paraplegia 5A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP7B1 Spastic paraplegia 5A, autosomal recessive 270800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None