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- B01a8fd4c9cf8d1bf13ddcbdec6cbee95 NCIT_P378 "NCI" @default.
- B01a8fd4c9cf8d1bf13ddcbdec6cbee95 type Axiom @default.
- B01a8fd4c9cf8d1bf13ddcbdec6cbee95 annotatedProperty IAO_0000115 @default.
- B01a8fd4c9cf8d1bf13ddcbdec6cbee95 annotatedSource NCIT_C85222 @default.
- B01a8fd4c9cf8d1bf13ddcbdec6cbee95 annotatedTarget "A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes." @default.