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Glycogen Storage Disease IB [Supplementary Concept]

A hereditary autosomal recessive type I glycogen storage disease caused by mutation in the SLC37A4 gene and characterized by short stature, a protruding abdomen, HEPATOMEGALY; NEUTROPENIA and recurrent BACTERIAL INFECTIONS. OMIM: 232220

Date introduced: November 5, 2012

MeSH Unique ID: C562594

Heading Mapped to:

Entry Terms:

  • Glucose-6-Phosphate Transport Defect
  • GSD Ib

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