Campomelic dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
CAMPOMELIC DYSPLASIA
114290140C1861922MESH:D055036MONDO:0007251
SOX9 Unknown
20301724 22051515 7990924 12783851 11754051 8001137 11323423 7485151 10951468 11076045 19449405 8894698
CTD ClinGen Disgenet GWAS catalog HPO Orphanet
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
C1842462
SOX9 Causal — Disgenet