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DeCS
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Descritor Inglês:
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Glycogen Storage Disease Type IIb
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Descritor Espanhol:
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Enfermedad por Depósito de Glucógeno de Tipo IIb
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Descritor Português:
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Doença de Depósito de Glicogênio Tipo IIb
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Sinônimos Inglês:
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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
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Categoria:
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C10.597.606.360.455.562
C14.280.238.458
C16.320.322.201
C16.320.565.202.449.510
C18.452.648.202.449.510
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Definição Inglês:
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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. |
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Nota Histórica Inglês:
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2006
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Qualificadores Permitidos Inglês:
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Número do Registro:
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50488
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Identificador Único:
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D052120
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Ocorrência na BVS:
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Similar:
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DeCS
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