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DOID:5204 - fructose-1,6-bisphosphatase deficiency
Disease Ontology 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.
Synonyms: fructose-1,6-diphosphatase deficiency, fructose 1 phosphate aldolase deficiency
Xenbase Genes : fbp1
MONDO:0009251 - fructose-1,6-bisphosphatase deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
carbohydrate metabolic disorder (is_a)