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- Ba0779a76936291d9b37a6ce5fb83c746 NCIT_P378 "NICHD" @default.
- Ba0779a76936291d9b37a6ce5fb83c746 type Axiom @default.
- Ba0779a76936291d9b37a6ce5fb83c746 annotatedProperty NCIT_P325 @default.
- Ba0779a76936291d9b37a6ce5fb83c746 annotatedSource NCIT_C34345 @default.
- Ba0779a76936291d9b37a6ce5fb83c746 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.