glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
MONDO:0009290
glycogen storage disease II
is_a
GSD due to acid maltase deficiency, infantile onset
exact
GSD type 2, infantile onset
exact
GSD type II, infantile onset
exact
Pompe disease, infantile onset
exact
alpha-1,4-glucosidase acid deficiency, infantile onset
exact
glycogen storage disease type 2, infantile onset
exact
glycogen storage disease type II, infantile onset
exact
glycogenosis due to acid maltase deficiency, infantile onset
exact
glycogenosis type 2, infantile onset
exact
glycogenosis type II, infantile onset
exact
SPAPB24D3.10c SPAC30D11.01c SPAC1039.11c