has material basis in germline mutation in SOX9 endocrine system disorder osteochondrodysplasia campomelic dysplasia https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/campomelic_dysplasia SCTID:74928006 OMIM:114290 icd11.foundation:913761638 Editor note: consider adding grouping class for related disorders MESH:D055036 acampomelic campomelic dysplasia CMD campomelic dwarfism MEDGEN:354620 Orphanet:140 GARD:0010027 Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). NORD:884 MONDO:0007251 CMPD1 NCIT:C84609 campomelic dysplasia Campomelic Syndrome DOID:0050463 UMLS:C1861922 ICD9:733.29 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome bent bone dysplasia 46 XY differences of sex development