CHARGE syndrome http://purl.bioontology.org/ontology/MEDDRA/10064063 http://purl.bioontology.org/ontology/MESH/D058747 http://purl.obolibrary.org/obo/DOID_0050834 http://purl.obolibrary.org/obo/NCIT_C75100 https://en.wikipedia.org/wiki/CHARGE_syndrome https://lgbta.fandom.com/wiki/CHARGE_Syndrome https://www.wikidata.org/wiki/Q1023604 A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. CHARGE association autosomal genetic syndrome