Related MeSH Hierarchy (5)
Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Cardiomyopathies » Glycogen Storage Disease Type IIb
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Glycogen Storage Disease Type IIb
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Glycogen Storage Disease » Glycogen Storage Disease Type IIb
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Glycogen Storage Disease » Glycogen Storage Disease Type IIb
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Neurobehavioral Manifestations » Intellectual Disability » Mental Retardation, X-Linked » Glycogen Storage Disease Type IIb
Description
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. MeSH
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Phase 1 Indicated Drugs (1)
Organization Involved with Phase 1 Indications (1)
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UMLS Data
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