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- B049982868403e43a11debb1ff959e269 NCIT_P378 "NCI" @default.
- B049982868403e43a11debb1ff959e269 type Axiom @default.
- B049982868403e43a11debb1ff959e269 annotatedProperty IAO_0000115 @default.
- B049982868403e43a11debb1ff959e269 annotatedSource NCIT_C34345 @default.
- B049982868403e43a11debb1ff959e269 annotatedTarget "An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia." @default.