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Ontology Browser

Term:
Polyglucosan Body Myopathy 1 with or without Immunodeficiency (DOID:9007616)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (7) Bonobo: (7) Dog: (6) Squirrel: (6) Pig: (7)
Parent Terms Term With Siblings Child Terms
Muscle Weakness +     
Camera Marugo Cohen Syndrome 
catecholaminergic polymorphic ventricular tachycardia 5  
coenzyme Q10 deficiency disease +   
congenital disorder of glycosylation It  
Danon disease  
Episodic Muscle Weakness, X-Linked 
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
glycogen storage disease II +   
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  
lethal congenital glycogen storage disease of heart  
myopathy with extrapyramidal signs  
nuclear type mitochondrial complex I deficiency 20  
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
An autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. (OMIM)
Polyglucosan Body Myopathy 2  

Synonyms
Exact Synonyms: PBMEI ;   PGBM1 ;   POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY ;   polyglucosan body myopathy-1
Narrow Synonyms: POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY ;   POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY ;   POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH IMMUNODEFICIENCY
Primary IDs: OMIM:615895

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