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- Ba09c7d5c1cd2f3e52ce2bf6ede5f7400 NCIT_P378 "NICHD" @default.
- Ba09c7d5c1cd2f3e52ce2bf6ede5f7400 type Axiom @default.
- Ba09c7d5c1cd2f3e52ce2bf6ede5f7400 annotatedProperty NCIT_P325 @default.
- Ba09c7d5c1cd2f3e52ce2bf6ede5f7400 annotatedSource NCIT_C34345 @default.
- Ba09c7d5c1cd2f3e52ce2bf6ede5f7400 annotatedTarget "An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature." @default.