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 INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2. 
History Note English:   2006 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   50488 
Unique Identifier:   D052120 

Occurrence in VHL: 		 

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