# campomelic dysplasia

> osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur

**Wikidata**: [Q1031536](https://www.wikidata.org/wiki/Q1031536)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Campomelic_dysplasia)  
**Source**: https://4ort.xyz/entity/campomelic-dysplasia


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9
4. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
5. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
6. BabelNet
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)