CHARGE Syndrome

"CHARGE Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D058747
MeSH Number(s)	C16.131.077.239 C16.320.165
Concept/Terms	CHARGE Syndrome CHARGE Syndrome CHARGE Syndromes Syndrome, CHARGE CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies CHARGE Association Association, CHARGE Associations, CHARGE CHARGE Associations Hall-Hittner Syndrome Hall Hittner Syndrome Syndrome, Hall-Hittner Familial CHARGE Syndrome Familial CHARGE Syndrome CHARGE Syndrome, Familial CHARGE Syndromes, Familial Familial CHARGE Syndromes

Below are MeSH descriptors whose meaning is more general than "CHARGE Syndrome".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
CHARGE Syndrome [C16.131.077.239]
Genetic Diseases, Inborn [C16.320]
CHARGE Syndrome [C16.320.165]

Below are MeSH descriptors whose meaning is related to "CHARGE Syndrome".

Below are MeSH descriptors whose meaning is more specific than "CHARGE Syndrome".

publications

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