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Fructose Intolerance

Disease ID: disease_node_3335

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DbxrefICD10CM:E74.12, ICD9CM:271.2, MESH:D005633, MIM:229600, NCI:C84720, SNOMEDCT_US_2023_03_01:20290005, UMLS_CUI:C0016751
SubclassofDOID_2978
Data SourceDOID, MESH
SynonymsFructosaemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructosemia
Mesh IdD005633
Mesh LabelFructose Intolerance
Mesh SubclassofD015318
Doid Labelhereditary fructose intolerance syndrome
Doid DescriptionA 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.
Disease Node Iddisease_node_3335
Doid IdDOID_9869
LabelFructose Intolerance