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- Bad45fc3fcd1ab174b9a823e32280b60a NCIT_P378 "NCI" @default.
- Bad45fc3fcd1ab174b9a823e32280b60a type Axiom @default.
- Bad45fc3fcd1ab174b9a823e32280b60a annotatedProperty IAO_0000115 @default.
- Bad45fc3fcd1ab174b9a823e32280b60a annotatedSource NCIT_C75100 @default.
- Bad45fc3fcd1ab174b9a823e32280b60a 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.