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

Xenbase Genes : gaa

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

MIM:
MIM:232300 - POMPE DISEASE

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

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