Structured Summary
Abstract
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.
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Broader headings
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MeSH Record
Synonyms
11 entry terms
- CHARGE Association
- CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
- Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
- Hall-Hittner Syndrome
- CHARGE Associations
- CHARGE Syndromes
- Hall Hittner Syndrome
- Familial CHARGE Syndrome
- CHARGE Syndrome, Familial
- CHARGE Syndromes, Familial
- Familial CHARGE Syndromes
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2011
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. CHARGE Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D058747. http://id.nlm.nih.gov/mesh/2026/D058747
- CHARGE Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/CHARGE_syndrome
- CHARGE Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1023604