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DO Term : hereditary fructose intolerance syndrome [DOID:9869] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Fructosemia,
  • Fructose-1,6-bisphosphate aldolase B deficiency,
  • MESH:D005633,
  • SNOMEDCT_US_2023_03_01:20290005,
  • ICD10CM:E74.12,
  • OMIM:229600,
  • Fructosaemia,
  • ICD9CM:271.2,
  • NCI:C84720,
  • UMLS_CUI:C0016751,
  • 229600
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