Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   CHARGE Syndrome 
Descriptor Spanish:   Síndrome CHARGE 
Descriptor Portuguese:   Síndrome CHARGE 
Synonyms English:   Association, CHARGE
Associations, CHARGE
CHARGE Association
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
CHARGE Associations
CHARGE Syndrome, Familial
CHARGE Syndromes
CHARGE Syndromes, Familial
Familial CHARGE Syndrome
Familial CHARGE Syndromes
Hall Hittner Syndrome
Hall-Hittner Syndrome
Syndrome, CHARGE
Syndrome, Hall-Hittner  
Tree Number:   C11.270.147.500
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53996 
Unique Identifier:   D058747 

Occurrence in VHL: