Summary Literature (0)

DOID:9869 - hereditary fructose intolerance syndrome

Disease Ontology Definition:A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.

Synonyms: Fructosaemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructosemia,

Echinobase Genes :


OMIM:

MIM:229600 - fructose intolerance, hereditary

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

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