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