Human Phenotype Ontology 
Grandparent Node:
expandAbnormal circulating carbohydrate concentration (HP:0011013)help
Parent Node:
expandImpairment of fructose metabolism (HP:0011033)help
..Starting node
..expandFructose intolerance (HP:0005973)help
Term ID: 5973
Name: Fructose intolerance
Synonym: Fructose malabsorption
Definition: Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.
Comments:
Reference: HP:0005973
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005973HP:0005973Fructose intolerance0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73


Genes (1) :ALDOB

Diseases (1) :OMIM:229600
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.