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
BENT BONE DYSPLASIA SYNDROME 2
620076C5774233MONDO:0859573
LAMA5 Unknown — ClinVar, Disgenet, 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.