Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bddc97c0146891ce7dabada57817406df> ?p ?o ?g. }
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- Bddc97c0146891ce7dabada57817406df NCIT_P378 "NCI" @default.
- Bddc97c0146891ce7dabada57817406df type Axiom @default.
- Bddc97c0146891ce7dabada57817406df annotatedProperty IAO_0000115 @default.
- Bddc97c0146891ce7dabada57817406df annotatedSource NCIT_C34345 @default.
- Bddc97c0146891ce7dabada57817406df 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.