OBO ID: DOID:0111680
Term Name: essential fructosuria Search Ontology:
Synonyms:
  • fructokinase deficiency
  • hepatic fructokinase deficiency
  • ketohexokinase deficiency
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
References:
  • ICD10CM:E74.11
  • MEDDRA:10015487
  • MESH:C538068
  • OMIM:229800
  • ORDO:2056
  • SNOMEDCT_US_2022_03_01:124300009
  • UMLS_CUI:C0268160
Ontology: Human Disease   (DOID:0111680)
OTHER essential fructosuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KHK ?[Fructosuria, essential] 229800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None