OBO ID: DOID:2751
Term Name: glycogen storage disease VIII Search Ontology:
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 )
OTHER glycogen storage disease VIII PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None