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- B38e8ec5ee2ae5f178403349a5950fab6 NCIT_P378 "NCI" @default.
- B38e8ec5ee2ae5f178403349a5950fab6 type Axiom @default.
- B38e8ec5ee2ae5f178403349a5950fab6 annotatedProperty IAO_0000115 @default.
- B38e8ec5ee2ae5f178403349a5950fab6 annotatedSource NCIT_C84904 @default.
- B38e8ec5ee2ae5f178403349a5950fab6 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.