FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term carbohydrate metabolic disorder ID (Ontology) DOID:2978 (Human Disease)
Definition An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
Also Known As "disorder of carbohydrate transport and metabolism" ; "inborn carbohydrate metabolism disorder" ; "inborn errors of carbohydrate metabolism"
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disease of metabolism__
genetic disease________|
                       inherited metabolic disorder
                        |__carbohydrate metabolic disorder  471 rec.
                            |__congenital disorder of deglycosylation 34 rec.
                            |   |__congenital disorder of deglycosylation 1 34 rec.
                            |   |__congenital disorder of deglycosylation 2
                            |__congenital disorder of glycosylation 91 rec.
                            |   |__alacrima, achalasia, and impaired intellectual development syndrome 1 rec.
                            |   |__congenital disorder of glycosylation type I(+) 56 rec.
                            |   |__congenital disorder of glycosylation type II(+) 31 rec.
                            |__congenital lactase deficiency 1 rec.
                            |__congenital sucrase-isomaltase deficiency 1 rec.
                            |__essential fructosuria 4 rec.
                            |__fructose-1,6-bisphosphatase deficiency 1 rec.
                            |__galactosemia 32 rec.
                            |   |__classic galactosemia 9 rec.
                            |   |__galactokinase deficiency 1 rec.
                            |   |__galactose epimerase deficiency 2 rec.
                            |   |__galactosemia 4 5 rec.
                            |__glucose metabolism disease 272 rec.
                            |   |__diabetes mellitus(+) 184 rec.
                            |   |__Fanconi-Bickel syndrome 5 rec.
                            |   |__glucose transporter type 1 deficiency syndrome(+) 5 rec.
                            |   |__glucose-galactose malabsorption 4 rec.
                            |   |__hyperglycemia(+)
                            |   |__hyperinsulinism
                            |   |__hypoglycemia(+) 26 rec.
                            |   |__phosphoglycerate kinase 1 deficiency 2 rec.
                            |   |__prediabetes syndrome
                            |   |__triosephosphate isomerase deficiency 23 rec.
                            |__glucosephosphate dehydrogenase deficiency
                            |   |__favism
                            |__glycogen metabolism disorder 15 rec.
                            |   |__glycogen storage disease(+) 13 rec.
                            |__hereditary fructose intolerance syndrome 1 rec.
                            |__intestinal disaccharidase deficiency
                            |__lactose intolerance 1 rec.
                            |__multiple carboxylase deficiency 5 rec.
                            |   |__biotinidase deficiency 4 rec.
                            |   |__holocarboxylase synthetase deficiency 1 rec.
                            |__primary hyperoxaluria 8 rec.
                            |   |__primary hyperoxaluria type 1 3 rec.
                            |   |__primary hyperoxaluria type 2 4 rec.
                            |   |__primary hyperoxaluria type 3
                            |__pyruvate carboxylase deficiency disease 1 rec.
                            |__pyruvate decarboxylase deficiency 7 rec.
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Is a inherited metabolic disorder
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Synonyms
  • "disorder of carbohydrate transport and metabolism" EXACT
    "inborn carbohydrate metabolism disorder" EXACT
    "inborn errors of carbohydrate metabolism" EXACT
Secondary IDs
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MESH:D002239
NCI:C97089
ORDO:79161
UMLS_CUI:C0007001
UMLS_CUI:C0149670