Bent bone dysplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
BENT BONE DYSPLASIA
C0432238
SOX9 Causal — Disgenet
BENT BONE DYSPLASIA SYNDROME 1
614592C3281247MONDO:0013815OMIM:614592
FGFR2 Causal
22387015 24300289 24908667 26446305 26573129 27240702 30620790
CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO
All3 Causal2 Unknown1
Related Diseases Diseases that share the most curated genes with Bent bone dysplasia.
5 View disease cluster →
Campomelic dysplasia 1 shared geneSOX9 Related via 1 shared gene including SOX9. Camptomelic dysplasia 1 shared geneSOX9 Related via 1 shared gene including SOX9. Cooks syndrome 1 shared geneSOX9 Related via 1 shared gene including SOX9. isolated Pierre-Robin syndrome 1 shared geneSOX9 Related via 1 shared gene including SOX9. Ankylosis 1 shared geneFGFR2 Related via 1 shared gene including FGFR2.