Search on: CHARGE SYNDROME 
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Descriptor English:   CHARGE Syndrome 
Descriptor Spanish:   Síndrome CHARGE 
Descriptor Portuguese:   Síndrome CHARGE 
Synonyms English:   CHARGE Association
Familial CHARGE Syndrome  
Tree Number:   C16.131.077.239
C16.320.165
Definition English:   Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome. 
History Note English:   2011 
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:   53996 
Unique Identifier:   D058747 

Occurrence in VHL: 		 

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