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

Echinobase Genes :


OMIM:

MIM:232300 - glycogen storage disease ii; gsd2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee