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,

Echinobase Genes :


OMIM:

MIM:229700 - fructose-1,6-bisphosphatase deficiency

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee