Search Ontology:
Human Disease

glycogen storage disease IX

Term ID
DOID:0050594
Synonyms
  • glycogen storage disease 8
  • glycogen storage disease 9
  • glycogen storage disease VIII
  • glycogenosis type IX
  • GSD IX
  • GSD VIII
  • GSD8
  • GSD9
Definition
A glycogen storage disease characterized by deficiency of phosphorylase kinase (PhK) activity. (2)
References
  • MESH:C580130
  • MESH:D006015
  • NCI:C122662
  • ORDO:370
  • SNOMEDCT_US_2025_09_01:41527003
  • SNOMEDCT_US_2026_03_01:235908005
  • UMLS_CUI:C0017927
  • UMLS_CUI:C0268147
Ontology
Human Disease   ( DOID:0050594 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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