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- B90f778b151b0de2be8113db3a30182c7 NCIT_P378 "ACC/AHA" @default.
- B90f778b151b0de2be8113db3a30182c7 type Axiom @default.
- B90f778b151b0de2be8113db3a30182c7 annotatedProperty NCIT_P325 @default.
- B90f778b151b0de2be8113db3a30182c7 annotatedSource NCIT_C75100 @default.
- B90f778b151b0de2be8113db3a30182c7 annotatedTarget "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." @default.