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
In the Vinony graph
Vinony's link graph records 317 inbound references to CHARGE syndrome, and connects out to congenital heart disease, human chromosome 8 and genetic testing.
It is catalogued under topics including Genetic syndromes, Syndromes affecting hearing and Syndromes affecting the eye.
Vinony links it to 15 Wikipedia language editions.
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