Search Ontology:
Human Disease

hereditary spastic paraplegia 5A

Term ID
DOID:0110810
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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