Glycogen Storage Disease Type IIb
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.
推出的年份: 2006
树号: 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
MeSH 单一 ID: D052120
进入的组:
Vacuolar Cardiomyopathy and Myopathy, X-linked
Vacuolar Cardiomyopathy and Myopathy, X linked
Glycogen Storage Disease IIb
X-Linked Vacuolar Cardiomyopathy and Myopathy
X Linked Vacuolar Cardiomyopathy and Myopathy
Pseudoglycogenosis 2
Pseudoglycogenosis 2s
Pseudoglycogenosis II
Pseudoglycogenosis IIs
Glycogen Storage Disease Type 2B
Antopol Disease
Disease, Antopol
Lysosomal Glycogen Storage Disease with Normal Acid Maltase
Glycogen Storage Disease Limited to the Heart
Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
Danon Disease
Glycogen Storage Cardiomyopathy
Cardiomyopathies, Glycogen Storage
Cardiomyopathy, Glycogen Storage
Glycogen Storage Cardiomyopathies
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