|OBO ID: DOID:0111680|
|Term Name:||essential fructosuria||Search 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. https://www.ncbi.nlm.nih.gov/pubmed/7833921|
|Ontology:||Human Disease (DOID:0111680)|
|is a type of:||
OTHER essential fructosuria PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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