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glycogen storage disease II (DOID:2752)
Synonyms: acid maltase deficiency; deficiency of glucoamylase; deficiency of maltase; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogen storage disease, type II (disorder); Glycogenosis, type 2; Lysosomal alpha-1,4-glucosidase deficiency (disorder); 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 (8)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory