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DOID:0081329 - glycogen storage disease I
Disease Ontology 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.
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
Echinobase Genes
:
slc37a4
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
glycogen storage disease (is_a)