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