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Disease Ontology Browser
glycogen storage disease I (DOID:0081329)
Alliance: disease page
Synonyms: deficiency of glucose-6-phosphatase; Glycogen storage disease 1; glycogen storage disease type I; glycogenosis type I; von Gierke disease; von Gierke's disease
Alt IDs: ICD10CM:E74.01, MESH:D005953, NCI:C84733, ORDO:364, UMLS_CUI:C0017920
Definition: A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas.

Disease References using Mouse Models (10)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory