Term Name: | glycogen storage disease II |
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Synonyms: | acid maltase deficiency, deficiency of glucoamylase, deficiency of maltase, Generalized glycogenosis, Glycogen storage disease 2, glycogen storage disease type II, Glycogen storage disease, type II, Glycogenosis, type 2, Lysosomal alpha-1,4-glucosidase deficiency, Pompe's disease |
Definition: | A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. |
Ontology: | Human Disease [DOID:2752] ( DOID:2752 ) |