CHARGE syndrome
Sign in to saveAlso known as CHARGE association, Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association, Hall-Hittner syndrome, Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association, Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina
Research
3,514 papers- CHARGE syndrome: a review.Journal of paediatrics and child health · 2014
- CHARGE Syndrome.2026
- CHARGE syndrome.Orphanet journal of rare diseases · 2006
- Immunodeficiency in CHARGE syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2017
- CHARGE Syndrome.Pediatrics in review · 2017
via PubMed
Wikidata facts
- Instance of
- symptom or sign
- Subclass of
- disease
Show 9 more facts
- health specialty
- medical genetics
- NCI Thesaurus ID
- C75100
- ICPC 2 ID
- A90
- Commons category
- CHARGE syndrome
- exact match
- www.orpha.net/ORDO/Orphanet_138
- ICD-9-CM
- 759.89
- external data available at URL
- www.nanbyou.or.jp/entry/4138
- genetic association
- CHD7
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (10)
via Wikidata · CC0