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Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Disease definition

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

ORPHA:79259

  • Synonym(s):
    • G6P deficiency type Ib
    • G6P translocase deficiency
    • G6PT deficiency
    • GSD due to G6P deficiency type Ib
    • GSD due to G6PT deficiency
    • GSD type 1 non a
    • GSD type 1b
    • GSD type Ib
    • GSDIb
    • Glycogen storage disease due to G6P deficiency type Ib
    • Glycogen storage disease type 1b
    • Glycogen storage disease type Ib
    • Glycogenosis due to glucose-6-phosphatase deficiency type 1b
    • Glycogenosis due to glucose-6-phosphatase transport defect type Ib
    • Glycogenosis type 1b
    • Glycogenosis type Ib
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.0
  • OMIM: 232220  232240
  • UMLS: C0268146
  • MeSH: -
  • GARD: 2515
  • MedDRA: -

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