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

Xenbase Genes : gaa

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


Other Model Organisms: AGR, 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)