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
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.
Broader concept
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
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
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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