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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:carbohydrate metabolic disorder
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Accession:DOID:2978 term browser browse the term
Definition:An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. (DO)
Synonyms:exact_synonym: carbohydrate metabolism, inborn error;   carbohydrate metabolism, inborn errors;   disorder of carbohydrate transport and metabolism;   inborn carbohydrate metabolism disorder;   inborn errors of carbohydrate metabolism
 narrow_synonym: abnormality of mucopolysaccharide metabolism
 xref: HP:0011020;   MESH:D002239;   MONDO:0019214;   NCI:C97089;   ORDO:79161
For additional species annotation, visit the Alliance of Genome Resources.


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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 19140
        Nutritional and Metabolic Diseases 8545
          disease of metabolism 8545
            inherited metabolic disorder 6628
              carbohydrate metabolic disorder 3419
                Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
                D-glyceric aciduria 1
                Fructose Metabolism, Inborn Errors + 14
                Fructose and Galactose Intolerance 0
                Hyperproglucagonemia 0
                Lactate Dehydrogenase Deficiency 0
                Mannosidase Deficiency Diseases + 83
                Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                Ogden syndrome 1
                PHGDH deficiency 11
                Phosphoenolpyruvate Carboxykinase Deficiency + 3
                Pyruvate Metabolism, Inborn Errors + 279
                Ribose 5-Phosphate Isomerase Deficiency 1
                Storage of Unusual Polysaccharide 0
                Transaldolase Deficiency 1
                Trehalase Deficiency 1
                Xylosidase Deficiency 0
                congenital disorder of deglycosylation + 7
                congenital disorder of glycosylation + 585
                congenital lactase deficiency 1
                congenital sucrase-isomaltase deficiency 1
                fructose-1,6-bisphosphatase deficiency + 11
                fucosidosis 2
                galactosemia + 94
                glucose metabolism disease + 2164
                glucosephosphate dehydrogenase deficiency + 63
                glycerol kinase deficiency 1
                glycogen metabolism disorder + 303
                glycoproteinosis + 11
                intestinal disaccharidase deficiency 0
                lactose intolerance + 2
                mucopolysaccharidosis + 64
                multiple carboxylase deficiency + 13
                pentosuria 1
                primary hyperoxaluria + 19
                pyruvate carboxylase deficiency disease + 2
                pyruvate decarboxylase deficiency + 66
    Path 2
    Term Annotations click to browse term
      disease 19140
        Developmental Disease 14675
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
            genetic disease 13391
              inherited metabolic disorder 6628
                carbohydrate metabolic disorder 3419
                  Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
                  D-glyceric aciduria 1
                  Fructose Metabolism, Inborn Errors + 14
                  Fructose and Galactose Intolerance 0
                  Hyperproglucagonemia 0
                  Lactate Dehydrogenase Deficiency 0
                  Mannosidase Deficiency Diseases + 83
                  Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                  Ogden syndrome 1
                  PHGDH deficiency 11
                  Phosphoenolpyruvate Carboxykinase Deficiency + 3
                  Pyruvate Metabolism, Inborn Errors + 279
                  Ribose 5-Phosphate Isomerase Deficiency 1
                  Storage of Unusual Polysaccharide 0
                  Transaldolase Deficiency 1
                  Trehalase Deficiency 1
                  Xylosidase Deficiency 0
                  congenital disorder of deglycosylation + 7
                  congenital disorder of glycosylation + 585
                  congenital lactase deficiency 1
                  congenital sucrase-isomaltase deficiency 1
                  fructose-1,6-bisphosphatase deficiency + 11
                  fucosidosis 2
                  galactosemia + 94
                  glucose metabolism disease + 2164
                  glucosephosphate dehydrogenase deficiency + 63
                  glycerol kinase deficiency 1
                  glycogen metabolism disorder + 303
                  glycoproteinosis + 11
                  intestinal disaccharidase deficiency 0
                  lactose intolerance + 2
                  mucopolysaccharidosis + 64
                  multiple carboxylase deficiency + 13
                  pentosuria 1
                  primary hyperoxaluria + 19
                  pyruvate carboxylase deficiency disease + 2
                  pyruvate decarboxylase deficiency + 66
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