OBO ID: DOID:0110799
Term Name: hereditary spastic paraplegia 47 Search Ontology:
Synonyms:
  • autosomal recessive spastic paraplegia 47
  • CPSQ5
  • spastic quadriplegic cerebral palsy 5
  • SPG47
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (2)
References:
Ontology: Human Disease   (DOID:0110799)
OTHER hereditary spastic paraplegia 47 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP4B1 Spastic paraplegia 47, autosomal recessive 614066
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None