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Summary Literature (0)
DOID:0111680 - essential fructosuria

Disease Ontology Definition:A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.

Synonyms: fructokinase deficiency, hepatic fructokinase deficiency, ketohexokinase deficiency

Xenbase Genes : khk



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

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