Search Ontology:
Human Disease

glycogen storage disease I

Term ID
DOID:0081329
Synonyms
  • Glycogen storage disease 1
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. (3)
References
  • ICD10CM:E74.01
  • MESH:D005953
  • NCI:C84733
  • ORDO:364
  • SNOMEDCT_US_2023_03_01:7265005
  • UMLS_CUI:C0017920
Ontology
Human Disease   ( DOID:0081329 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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