Search Ontology:
Human Disease

hereditary spastic paraplegia 52

Term ID
DOID:0110804
Synonyms
  • autosomal recessive spastic paraplegia 52
  • CPSQ6
  • spastic quadriplegic cerebral palsy 6
  • SPG52
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/21620353
References
Ontology
Human Disease   ( DOID:0110804 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models