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Ontology Browser

Term:
glycogen storage disease XV (DOID:0050579)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
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 +   
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  
A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO)
lethal congenital glycogen storage disease of heart  
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  

Synonyms
Exact Synonyms: GSD XV ;   GSD15 ;   GYG1 deficiency ;   glycogen storage disease type XV ;   glycogenin deficiency
Primary IDs: OMIM:613507
Definition Sources: https://www.omim.org/entry/613507 "DO"

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