OBO ID: DOID:9869
Term Name: hereditary fructose intolerance syndrome Search Ontology:
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
  • NCI:C84720
  • OMIM:229600
  • SNOMEDCT_US_2023_03_01:20290005
  • UMLS_CUI:C0016751
Ontology: Human Disease   ( DOID:9869 )
Relationships
is a type of:
OTHER hereditary fructose intolerance syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDOB Fructose intolerance, hereditary 229600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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