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Summary Literature (0)
DOID:2749 - glycogen storage disease I

Disease Ontology Definition:A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.

Synonyms: Glycogen storage disease, type I (disorder), deficiency of glucose-6-phosphatase, glycogen storage disease type I, glycogenosis type I, von Gierke disease, von Gierke's disease,

Echinobase Genes : slc37a4

OMIM:232200 - glycogen storage disease ia; gsd1a
OMIM:232220 - glycogen storage disease ib; gsd1b
OMIM:232240 - glycogen storage disease ic

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

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