Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Behavior and Behavior Mechanisms
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Término preferido
Glycogen Storage Disease Type IIb
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- 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
En otras lenguas
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francés
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Glycogénose due au déficit en LAMP-2
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Glycogénose lysosomale à activité maltase acide normale
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GSD IIb
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Maladie de Danon
URI
http://data.loterre.fr/ark:/67375/JVR-CQHCZHD2-Z
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