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- Bff7aee8c73b763409e8fee5cd270dedd NCIT_P378 "NCI" @default.
- Bff7aee8c73b763409e8fee5cd270dedd type Axiom @default.
- Bff7aee8c73b763409e8fee5cd270dedd annotatedProperty IAO_0000115 @default.
- Bff7aee8c73b763409e8fee5cd270dedd annotatedSource NCIT_C98983 @default.
- Bff7aee8c73b763409e8fee5cd270dedd 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.