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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
:
aldob
| MONDO:0009249 - hereditary fructose intolerance |
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)