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- B6e187f2cfc82d1ae32a950e616ee4f6e NCIT_P378 "NCI" @default.
- B6e187f2cfc82d1ae32a950e616ee4f6e type Axiom @default.
- B6e187f2cfc82d1ae32a950e616ee4f6e annotatedProperty IAO_0000115 @default.
- B6e187f2cfc82d1ae32a950e616ee4f6e annotatedSource NCIT_C84904 @default.
- B6e187f2cfc82d1ae32a950e616ee4f6e annotatedTarget "A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes." @default.