Disease_Mapped_To_Gene Pediatric Endocrinology Terminology Cellosaurus Disease Terminology ACC/AHA Pediatric and Congenital Cardiology EHR Terminology Syndrome Rare Non-Neoplastic Disorder CHARGE Syndrome C4225521 An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies. CHARGE Syndrome ACC/AHA Disease or Syndrome NICHD 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. C75100 CHARGE_Syndrome Cellosaurus CHARGE association Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association CHARGE Syndrome A genetic syndrome characterized by autosomal dominant 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 delay, genital, and ear abnormalities. Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association CHD7 Gene NICHD Terminology Neonatal Research Network Terminology