OBO ID: DOID:0111680 |
Term Name: | essential fructosuria | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111680 ) |
OTHER essential fructosuria PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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