Search Ontology:
Human Disease

hereditary fructose intolerance syndrome

Term ID
DOID:9869
Synonyms
  • Fructosaemia
  • Fructose-1,6-bisphosphate aldolase B deficiency
  • Fructosemia
Definition
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. (2)
References
  • ICD10CM:E74.12
  • ICD9CM:271.2
  • MESH:D005633
  • MIM:229600
  • NCI:C84720
  • SNOMEDCT_US_2023_03_01:20290005
  • UMLS_CUI:C0016751
Ontology
Human Disease   ( DOID:9869 )
Relationships
is a type of
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Genes Involved
Zebrafish Models