About   Help   FAQ
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'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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory