Search on: GLYCOGEN STORAGE DISEASE TYPE IIB 
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Descriptor English:   Glycogen Storage Disease Type IIb 
Descriptor Spanish:   Enfermedad por Depósito de Glucógeno de Tipo IIb 
Descriptor Portuguese:   Doença de Depósito de Glicogênio Tipo IIb 
Tree Number:   C10.597.606.643.455.562
C14.280.238.458
C16.320.322.201
C16.320.565.202.449.510
C18.452.648.202.449.510
Definition English:   An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATION. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2. 
History Note English:   2006 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
economics ethnology
embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
urine ultrasonography
veterinary virology
Record Number:   50488 
Unique Identifier:   D052120 

Occurrence in VHL: 		 

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