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Summary Literature (0)
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 phosphate aldolase deficiency, fructose-1,6-diphosphatase deficiency,

Xenbase Genes : fbp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009251 - fructose-1,6-bisphosphatase deficiency


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): carbohydrate metabolic disorder (is_a)