OBO ID: DOID:0110800
Term Name: hereditary spastic paraplegia 48 Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 48
  • autosomal recessive spastic paraplegia type 48
  • SPG48
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. https://www.ncbi.nlm.nih.gov/pubmed/20613862
References:
Ontology: Human Disease   (DOID:0110800)
OTHER hereditary spastic paraplegia 48 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP5Z1 Spastic paraplegia 48, autosomal recessive 613647
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None