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Ontology Browser
Term:
congenital disorder of glycosylation (DOID:5212)
Annotations: Rat: (105) Mouse: (106) Human: (117) Chinchilla: (104) Bonobo: (106) Dog: (103) Squirrel: (105) Pig: (104)
Parent Terms Term With Siblings Child Terms
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
congenital disorder of glycosylation +   
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Congenital Lactase Deficiency  
D-Glycericacidemia  
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
fucosidosis  
galactosemia +   
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
glycerol kinase deficiency  
glycogen metabolism disorder +   
glycogen storage disease +   
glycoproteinosis +   
hyperinsulinemic hypoglycemia +   
Hyperproglucagonemia 
intestinal disaccharidase deficiency 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Mannosidase Deficiency Diseases +   
mucopolysaccharidosis +   
multiple carboxylase deficiency +   
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
NGLY1-deficiency  
Ogden syndrome  
pentosuria  
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
primary hyperoxaluria +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Ribose 5-Phosphate Isomerase Deficiency  
Storage of Unusual Polysaccharide 
Sucrase-Isomaltase Deficiency, Congenital  
Transaldolase Deficiency  
Trehalase Deficiency  
triosephosphate isomerase deficiency  
Xylosidase Deficiency 

Synonyms
Exact Synonyms: Carbohydrate Deficient Glycoprotein Syndrome ;   Carbohydrate-Deficient Glycoprotein Syndromes ;   congenital disorders of glycosylation
Primary IDs: MESH:D018981 ;   RDO:0001028
Xrefs: GARD:10307 ;   NCI:C84615 ;   OMIM:PS212065 ;   ORDO:137
Definition Sources: MESH:D018981, http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation

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