|  Help  |  About  |  Contact Us

DO Term : essential fructosuria [DOID:0111680] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C538068,
  • MEDDRA:10015487,
  • OMIM:229800,
  • ketohexokinase deficiency,
  • 229800,
  • hepatic fructokinase deficiency,
  • ORDO:2056,
  • UMLS_CUI:C0268160,
  • SNOMEDCT_US_2023_03_01:124300009,
  • ICD10CM:E74.11,
  • fructokinase deficiency
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents