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Concept information

Cardiovascular Diseases > Heart Diseases > Cardiomyopathies > Glycogen Storage Disease Type IIb

Preferred term

Glycogen Storage Disease Type IIb  

Type

  • mesh:Descriptor

Definition

  • An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

Entry terms

  • Antopol Disease
  • Danon Disease
  • Glycogen Storage Cardiomyopathy
  • Glycogen Storage Disease IIb
  • Glycogen Storage Disease Limited to the Heart
  • Glycogen Storage Disease Type 2B
  • Lysosomal Glycogen Storage Disease with Normal Acid Maltase
  • Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
  • Pseudoglycogenosis 2
  • Pseudoglycogenosis II
  • Vacuolar Cardiomyopathy and Myopathy, X-linked
  • X-Linked Vacuolar Cardiomyopathy and Myopathy

In other languages

  • French

  • Glycogénose due au déficit en LAMP-2
  • Glycogénose lysosomale à activité maltase acide normale
  • GSD IIb
  • Maladie de Danon

URI

http://data.loterre.fr/ark:/67375/JVR-CQHCZHD2-Z

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RDF/XML TURTLE JSON-LD Created 6/30/05, last modified 6/30/18