H00442 | |
H number | H00442 |
Name | Campomelic dysplasia |
Description | Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported. |
Category | Congenital malformation |
Network | - |
Gene | SOX9 [HSA:6662] [KO:K18435] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2A.Y ICD-10: Q87.1 MeSH: D055036 OMIM: 114290 |
Reference | PMID:21309066 AUTHORS Lee YH, Saint-Jeannet JP TITLE Sox9 function in craniofacial development and disease. JOURNAL Genesis 49:200-8 (2011) DOI:10.1002/dvg.20717 |