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Ontology Browser

Term:
lethal congenital glycogen storage disease of heart (DOID:0090101)
Annotations: Rat: (1) Mouse: (1) Human: (6) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
heart disease +     
Acute Heart Injury  
AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME  
autoimmune cardiomyopathy 
Carcinoid Heart Disease 
cardiac arrest +   
Cardiac Arrhythmias +   
Cardiac Fibrosis  
Cardiac Output, High  
Cardiac Output, Low  
cardiac tuberculosis +  
Cardiomegaly +   
cardiomyopathy +   
chronic atrial and intestinal dysrhythmia  
congenital disorder of glycosylation It  
congenital heart disease +   
congestive heart failure +   
cystic echinococcosis  
cysticercosis +  
Danon disease  
endocarditis +  
endocardium 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  
GM1 gangliosidosis type 1  
heart aneurysm +   
heart conduction disease +   
heart lipoma +  
Heart Neoplasms +  
Heart Rupture +   
heart valve disease +   
heterophyiasis 
hypertensive heart disease  
lethal congenital glycogen storage disease of heart  
A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)
Myocardial Ischemia +   
myocardial stunning  
pericarditis +   
pericardium disease +   
Pneumopericardium 
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  
Postpericardiotomy Syndrome 
rheumatic heart disease +   
toxocariasis +   
Ventricular Dysfunction +   
Ventricular Outflow Obstruction +   
Yorifuji Okuno Syndrome 

Synonyms
Exact Synonyms: fatal congenital hypertrophic cardiomyopathy due to GSD ;   fatal congenital hypertrophic cardiomyopathy due to glycogenosis ;   fatal congenital nonlysosomal cardiac glycogenosis ;   glycogen storage disease of heart ;   phosphorylase kinase deficiency of heart
Primary IDs: MESH:C564888
Alternate IDs: OMIM:261740 ;   RDO:0013702
Xrefs: ICD10CM:E74.0+ ;   ICD10CM:G73.6* ;   ORDO:439854
Definition Sources: https://ghr.nlm.nih.gov/gene/PRKAG2#conditions "DO", https://www.omim.org/entry/261740 "DO"

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