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- B089ee3eb49ac4985082b5e485878614d NCIT_P378 "NCI" @default.
- B089ee3eb49ac4985082b5e485878614d type Axiom @default.
- B089ee3eb49ac4985082b5e485878614d annotatedProperty IAO_0000115 @default.
- B089ee3eb49ac4985082b5e485878614d annotatedSource NCIT_C98983 @default.
- B089ee3eb49ac4985082b5e485878614d annotatedTarget "An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities." @default.