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DO Term : glycogen storage disease VIII [DOID:2751] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
  • synonyms:
  • Glycogen storage disease 8,
  • MESH:D006015,
  • hepatic glycogen phosphorylase kinase deficiency,
  • glycogen storage disease type VIII,
  • UMLS_CUI:C0017927,
  • glycogenosis type VIII,
  • SNOMEDCT_US_2023_03_01:41527003
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