OBO ID: DOID:5204
Term Name: fructose-1,6-bisphosphatase deficiency Search Ontology:
Synonyms:
  • fructose 1 phosphate aldolase deficiency
  • fructose-1,6-diphosphatase deficiency
Definition: A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. (2)
References:
Ontology: Human Disease   ( DOID:5204 )
OTHER fructose-1,6-bisphosphatase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FBP1 Fructose-1,6-bisphosphatase deficiency 229700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None