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Cardiovascular Diseases > Heart Diseases > Cardiomyopathies > Glycogen Storage Disease Type IIb
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Glycogen Storage Disease Type IIb
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Glycogen Storage Disease Type IIb
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Glycogen Storage Disease Type IIb
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Glycogen Storage Disease Type IIb
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Glycogen Storage Disease Type IIb
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Glycogen Storage Disease Type IIb
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Glycogen Storage Disease Type IIb
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type IIb
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type IIb

Terme préférentiel

Glycogen Storage Disease Type IIb  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

  • 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

Qualificatif(s) autorisé(s)

Traductions

  • Glycogénose de type IIb

    français

  • 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 Date de création 30/06/2005, dernière modification le 30/06/2018