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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 (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, Generalized glycogenosis, Glycogen storage disease 2, Glycogen storage disease, type II, Lysosomal alpha-1,4-glucosidase deficiency
Echinobase Genes
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| MIM:232300 - glycogen storage disease ii; gsd2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee