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Disease Ontology Browser
glycogen storage disease I (DOID:2749)
Synonyms: deficiency of glucose-6-phosphatase; glycogen storage disease type I; Glycogen storage disease, type I (disorder); glycogenosis type I; von Gierke disease; von Gierke's disease
Alt IDs: OMIM:232200, OMIM:232220, OMIM:232240, ICD10CM:E74.01, MESH:D005953, NCI:C84733, UMLS_CUI:C0017920
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.

Disease References using Mouse Models (6)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory