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Glycogen storage disease due to liver glycogen phosphorylase deficiency

Disease definition

Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.

ORPHA:369

  • Synonym(s):
    • GSD due to liver glycogen phosphorylase deficiency
    • GSD type 6
    • GSD type VI
    • Glycogen storage disease type 6
    • Glycogen storage disease type VI
    • Glycogenosis due to liver glycogen phosphorylase deficiency
    • Glycogenosis type 6
    • Glycogenosis type VI
    • Hepatic glycogen phosphorylase deficiency
    • Hepatic phosphorylase deficiency
    • Hers disease
    • Liver glycogen phosphorylase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 232700
  • UMLS: C0017925
  • MeSH: -
  • GARD: 6529
  • MedDRA: 10053240

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