Concept information
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Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Glycogen Storage Disease
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Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Glycogen Storage Disease
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
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
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Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
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Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Preferred term
Glycogen Storage Disease Type IIb
Type
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Topical Descriptor
Broader concept
Entry terms
- Antopol Disease
- Cardiomyopathies, Glycogen Storage
- Cardiomyopathy, Glycogen Storage
- Danon Disease
- Disease, Antopol
- Glycogen Storage Cardiomyopathies
- 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 2s
- Pseudoglycogenosis II
- Pseudoglycogenosis IIs
- Vacuolar Cardiomyopathy and Myopathy, X linked
- Vacuolar Cardiomyopathy and Myopathy, X-linked
- X Linked Vacuolar Cardiomyopathy and Myopathy
- X-Linked Vacuolar Cardiomyopathy and Myopathy
Scope note
- 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.
History note
- 2006
In other languages
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Finnish
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Swedish
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Antopols sjukdom
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Danons sjukdom
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Glykogeninlagringskardiomyopati
URI
http://www.yso.fi/onto/mesh/D052120
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