Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:


Your selection has 2785 annotated objects. The maximum number of objects that can be shown is 2000. The list is too large to display.

  • Select a more specific term using the term browser
  • Download the entire list for this term
  • Display annotations for this term only (exclude descendants)



  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 21142
        Nutritional and Metabolic Diseases 8229
          disease of metabolism 8229
            inherited metabolic disorder 6205
              carbohydrate metabolic disorder 3264
                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 1
                Mannosidase Deficiency Diseases + 81
                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 + 538
                congenital lactase deficiency 1
                congenital sucrase-isomaltase deficiency 1
                fructose-1,6-bisphosphatase deficiency + 10
                fucosidosis 2
                galactosemia + 94
                glucose metabolism disease + 2066
                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 + 19
                pyruvate carboxylase deficiency disease + 2
                pyruvate decarboxylase deficiency + 56
    Path 2
    Term Annotations click to browse term
      disease 21142
        Developmental Disease 18459
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
            genetic disease 18264
              inherited metabolic disorder 6205
                carbohydrate metabolic disorder 3264
                  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 1
                  Mannosidase Deficiency Diseases + 81
                  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 + 538
                  congenital lactase deficiency 1
                  congenital sucrase-isomaltase deficiency 1
                  fructose-1,6-bisphosphatase deficiency + 10
                  fucosidosis 2
                  galactosemia + 94
                  glucose metabolism disease + 2066
                  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 + 19
                  pyruvate carboxylase deficiency disease + 2
                  pyruvate decarboxylase deficiency + 56
    paths to the root