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Disease Ontology Browser
essential fructosuria (DOID:0111680)
Alliance: disease page
Synonyms: fructokinase deficiency; hepatic fructokinase deficiency; ketohexokinase deficiency
Alt IDs: OMIM:229800, ICD10CM:E74.11, MESH:C538068, ORDO:2056, UMLS_CUI:C0268160
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory