Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:2752 - glycogen storage disease II

Disease Ontology 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.

Synonyms: acid maltase deficiency, deficiency of glucoamylase, deficiency of maltase, Generalized glycogenosis, Generalized glycogenosis (disorder), Glycogenosis, type 2, Glycogen storage disease 2, glycogen storage disease type II, Glycogen storage disease, type II, Glycogen storage disease, type II (disorder), Lysosomal alpha-1,4-glucosidase deficiency, Lysosomal alpha-1,4-glucosidase deficiency (disorder), Pompe's disease

Xenbase Genes : gaa

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009290 - glycogen storage disease II


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), glycogen storage disease (is_a)