hereditary fructose intolerance syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aldob

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009249 - hereditary fructose intolerance

MONDO:0009249 - hereditary fructose intolerance

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)