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DO Term : glycogen storage disease XV [DOID:0050579] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
  • synonyms:
  • Glycogen storage disease 15,
  • ORDO:263297,
  • OMIM:613507,
  • 613507,
  • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,
  • glycogen storage disease type XV
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