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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
 primary_id: MESH:D002239
 xref: HP:0011020;   OMIM:PS606777
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 21128
        Nutritional and Metabolic Diseases 8237
          disease of metabolism 8237
            inherited metabolic disorder 6214
              carbohydrate metabolic disorder 3267
                Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
                D-glyceric aciduria 1
                Fructose Metabolism, Inborn Errors + 13
                Fructose and Galactose Intolerance 0
                GLUT1 Deficiency Syndrome 4
                Glucose-Galactose Malabsorption 5
                Hyperproglucagonemia 0
                Lactate Dehydrogenase Deficiency 0
                Mannosidase Deficiency Diseases + 82
                Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                NGLY1-deficiency 5
                Ogden syndrome 1
                PHGDH deficiency 11
                Phosphoenolpyruvate Carboxykinase Deficiency + 3
                Pyruvate Metabolism, Inborn Errors + 270
                Ribose 5-Phosphate Isomerase Deficiency 1
                Storage of Unusual Polysaccharide 0
                Transaldolase Deficiency 1
                Trehalase Deficiency 1
                Xylosidase Deficiency 0
                childhood onset GLUT1 deficiency syndrome 2 1
                congenital disorder of glycosylation + 539
                congenital lactase deficiency 1
                congenital sucrase-isomaltase deficiency 1
                fructose-1,6-bisphosphatase deficiency + 10
                fucosidosis 2
                galactosemia + 94
                glucose metabolism disease + 2071
                glucosephosphate dehydrogenase deficiency + 64
                glycerol kinase deficiency 1
                glycogen metabolism disorder + 264
                glycoproteinosis + 9
                intestinal disaccharidase deficiency 0
                lactose intolerance + 2
                mucopolysaccharidosis + 44
                multiple carboxylase deficiency + 13
                pentosuria 1
                primary hyperoxaluria + 18
                pyruvate carboxylase deficiency disease + 2
                pyruvate decarboxylase deficiency + 56
    Path 2
    Term Annotations click to browse term
      disease 21128
        Developmental Disease 18449
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
            genetic disease 18253
              inherited metabolic disorder 6214
                carbohydrate metabolic disorder 3267
                  Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
                  D-glyceric aciduria 1
                  Fructose Metabolism, Inborn Errors + 13
                  Fructose and Galactose Intolerance 0
                  GLUT1 Deficiency Syndrome 4
                  Glucose-Galactose Malabsorption 5
                  Hyperproglucagonemia 0
                  Lactate Dehydrogenase Deficiency 0
                  Mannosidase Deficiency Diseases + 82
                  Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                  NGLY1-deficiency 5
                  Ogden syndrome 1
                  PHGDH deficiency 11
                  Phosphoenolpyruvate Carboxykinase Deficiency + 3
                  Pyruvate Metabolism, Inborn Errors + 270
                  Ribose 5-Phosphate Isomerase Deficiency 1
                  Storage of Unusual Polysaccharide 0
                  Transaldolase Deficiency 1
                  Trehalase Deficiency 1
                  Xylosidase Deficiency 0
                  childhood onset GLUT1 deficiency syndrome 2 1
                  congenital disorder of glycosylation + 539
                  congenital lactase deficiency 1
                  congenital sucrase-isomaltase deficiency 1
                  fructose-1,6-bisphosphatase deficiency + 10
                  fucosidosis 2
                  galactosemia + 94
                  glucose metabolism disease + 2071
                  glucosephosphate dehydrogenase deficiency + 64
                  glycerol kinase deficiency 1
                  glycogen metabolism disorder + 264
                  glycoproteinosis + 9
                  intestinal disaccharidase deficiency 0
                  lactose intolerance + 2
                  mucopolysaccharidosis + 44
                  multiple carboxylase deficiency + 13
                  pentosuria 1
                  primary hyperoxaluria + 18
                  pyruvate carboxylase deficiency disease + 2
                  pyruvate decarboxylase deficiency + 56
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