Search Ontology:
Human Disease

glycogen storage disease VIII

Term ID
DOID:2751
Synonyms
  • Glycogen storage disease 8
  • glycogen storage disease type VIII
  • glycogenosis type VIII
  • hepatic glycogen phosphorylase kinase deficiency
Definition
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. https://pubmed.ncbi.nlm.nih.gov/2558039/
References
  • MESH:D006015
  • SNOMEDCT_US_2023_03_01:41527003
  • UMLS_CUI:C0017927
Ontology
Human Disease   ( DOID:2751 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations