Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

CHARGE Syndrome MeSH Descriptor Data 2026


MeSH Heading
CHARGE Syndrome
Tree Number(s)
C09.218.458.341.186.500.250
C10.597.751.418.341.186.500.250
C10.597.751.941.162.625.250
C11.270.147.500
C11.966.075.375.250
C16.131.077.299.250
C16.320.165
C23.888.592.763.393.341.186.500.500
C23.888.592.763.941.162.625.500
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
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Familial CHARGE Syndrome
Hall-Hittner Syndrome
Public MeSH Note
2011
History Note
2011
Date Introduced
2011/01/01
Last Updated
2022/04/13
CHARGE Syndrome Preferred
Familial CHARGE Syndrome Narrower
page delivered in 0.172s