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Term:
glycogen storage disease (DOID:2747)
Annotations: Rat: (41) Mouse: (39) Human: (43) Chinchilla: (37) Bonobo: (37) Dog: (39) Squirrel: (37)
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 +   
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 +   
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
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 +   
Polysaccharide, Storage of Unusual 
primary hyperoxaluria +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Metabolism, Inborn Errors +   
Ribose 5-Phosphate Isomerase Deficiency  
Sucrase-Isomaltase Deficiency, Congenital  
Transaldolase Deficiency  
Trehalase Deficiency  
triosephosphate isomerase deficiency  
Xylosidase Deficiency 

Synonyms
Exact Synonyms: glycogen storage diseases ;   glycogenoses ;   glycogenosis
Primary IDs: MESH:D006008
Alternate IDs: RDO:0004069
Xrefs: NCI:C61272 ;   OMIM:PS615895
Definition Sources: MESH:D006008, http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism, http://en.wikipedia.org/wiki/Glycogen_storage_disease, http://www.slideshare.net/anjupaed/glcogen-storage-disorders

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.