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Ontology Browser

glycogen storage disease II (DOID:2752)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
congenital disorder of glycosylation It  
Danon disease  
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
glycogen storage disease II +   
A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (DO)
glycogen storage disease III +   
glycogen storage disease IV +   
glycogen storage disease IX +   
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
glycogen storage disease VIII 
Glycogen Storage Disease XI  
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
glycoproteinosis +   
lethal congenital glycogen storage disease of heart  
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  
sialuria +   
sphingolipidosis +   

Exact Synonyms: AMD ;   Acid Alpha Glucosidase Deficiency ;   Acid Maltase Deficiency ;   Acid Maltase Deficiency Disease ;   Adult Glycogen Storage Disease Type II ;   Alpha 1,4 Glucosidase Deficiency ;   Alpha-1,4-Glucosidase Deficiencies ;   Alpha-Glucosidase Deficiencies ;   Alpha-Glucosidase Deficiency ;   Deficiency of Alpha Glucosidase ;   GAA Deficiencies ;   GAA Deficiency ;   GSD II ;   GSD2 ;   Generalized Glycogenoses ;   Generalized Glycogenosis ;   Glycogen Storage Disease II, Adult Form ;   Glycogen Storage Disease II, Infantile Form ;   Glycogen Storage Disease Type 2 ;   Glycogenosis 2 ;   Glycogenosis Type II ;   Infantile Glycogen Storage Disease Type II ;   Juvenile Glycogen Storage Disease Type II ;   Lysosomal alpha 1,4 Glucosidase Deficiency Disease ;   Pompe Disease ;   Pompe's disease ;   Pompes disease ;   acid alpha-glucosidase deficiencies ;   acid maltase deficiencies ;   deficiency of glucoamylase ;   deficiency of maltase ;   glycogen storage disease type II ;   glycogenosis type 2 ;   lysosomal alpha-1,4-glucosidase deficiency
Primary IDs: MESH:D006009
Alternate IDs: OMIA:000419 ;   OMIM:232300
Xrefs: GARD:5714 ;   ICD10CM:E74.02 ;   NCI:C84734 ;   ORDO:365
Definition Sources: "DO"

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