DO_rare_slim NCIthesaurus existence starts during glycogen storage disease I UMLS_CUI:C0017920 MESH:D005953 SNOMEDCT_US_2025_09_01:7265005 ORDO:364 disease_ontology ICD10CM:E74.01 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. NCI:C84733 DOID:0081329 Glycogen storage disease 1 deficiency of glucose-6-phosphatase glycogen storage disease type I glycogenosis type I von Gierke disease von Gierke's disease glycogen storage disease Infantile onset