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Disease Ontology Browser
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 disease; Pompe's disease
Alt IDs: OMIM:232300, ICD10CM:E74.02, MESH:D006009, NCI:C84734, UMLS_CUI:C0017921
Definition: A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.

Disease References using Mouse Models (11)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
01/28/2026
MGI 6.24 		The Jackson Laboratory