glycogen storage disease II (DOID:2752)
Alliance: disease page
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
Alt IDs: OMIM:232300, ICD10CM:E74.02, MESH:D006009, NCI:C84734, UMLS_CUI:C0017921
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.