Bent bone dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
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