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DO Term : glycogen storage disease I [DOID:0081329] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • glycogen storage disease type I,
  • UMLS_CUI:C0017920,
  • NCI:C84733,
  • von Gierke's disease,
  • deficiency of glucose-6-phosphatase,
  • glycogenosis type I,
  • Glycogen storage disease 1,
  • MESH:D005953,
  • ICD10CM:E74.01,
  • SNOMEDCT_US_2023_03_01:7265005,
  • ORDO:364,
  • von Gierke disease
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