FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hereditary fructose intolerance syndrome ID (Ontology) DOID:9869 (Human Disease)
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.
Also Known As "Fructosaemia" ; "Fructose-1,6-bisphosphate aldolase B deficiency" ; "Fructosemia"
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 Genes
 hereditary fructose intolerance syndrome       1
 for disease ribbon | hereditary fructose intolerance syndrome       1
 model of | hereditary fructose intolerance syndrome       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__carbohydrate metabolic disorder
       |__hereditary fructose intolerance syndrome  1 rec.
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Is a carbohydrate metabolic disorder
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Synonyms
  • "Fructosaemia" EXACT
    "Fructose-1,6-bisphosphate aldolase B deficiency" EXACT
    "Fructosemia" EXACT
Secondary IDs
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ICD10CM:E74.12
ICD9CM:271.2
MESH:D005633
MIM:229600
NCI:C84720
SNOMEDCT_US_2023_03_01:20290005
UMLS_CUI:C0016751