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CHARGE Syndrome MeSH Descriptor Data 2022


MeSH Heading
CHARGE Syndrome
Tree Number(s)
C11.270.147.500
C16.131.077.239
C16.320.165
Unique ID
D058747
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D058747
Scope Note
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.
Entry Term(s)
CHARGE Association
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Familial CHARGE Syndrome
Hall-Hittner Syndrome
Public MeSH Note
2011
History Note
2011
Date Established
2011/01/01
Date of Entry
2010/06/25
Revision Date
2018/06/15
CHARGE Syndrome Preferred
Familial CHARGE Syndrome Narrower
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