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- B652d955eb4342fc8549ca28cd04bca3c NCIT_P378 "NCI" @default.
- B652d955eb4342fc8549ca28cd04bca3c type Axiom @default.
- B652d955eb4342fc8549ca28cd04bca3c annotatedProperty IAO_0000115 @default.
- B652d955eb4342fc8549ca28cd04bca3c annotatedSource NCIT_C75100 @default.
- B652d955eb4342fc8549ca28cd04bca3c annotatedTarget "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." @default.