lethal congenital glycogen storage disease of heart
Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.
MONDO:0002412
disorder of glycogen metabolism
is_a
MONDO:0800484
PRKAG2-related cardiomyopathy
is_a
PRKAG2 glycogen storage disease
exact
fatal congenital hypertrophic cardiomyopathy due to GSD
exact
fatal congenital hypertrophic cardiomyopathy due to glycogenosis
exact
glycogen storage disease caused by mutation in PRKAG2
exact
phosphorylase kinase deficiency of heart
exact
SPAC1556.08c