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- NCIT_C34345 IAO_0000115 "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.
- NCIT_C34345 NCIT_NHC0 "C34345" @default.
- NCIT_C34345 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C34345 NCIT_P108 "Achondroplasia" @default.
- NCIT_C34345 NCIT_P207 "C0001080" @default.
- NCIT_C34345 NCIT_P322 "Cellosaurus" @default.
- NCIT_C34345 NCIT_P322 "NICHD" @default.
- NCIT_C34345 NCIT_P325 "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.
- NCIT_C34345 NCIT_P366 "Achondroplasia" @default.
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- NCIT_C34345 normalizedInformationContent "92.730304365937428" @default.
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- NCIT_C34345 hasExactSynonym "Achondroplasia" @default.
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