# Desbuquois dysplasia

> osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx

**Wikidata**: [Q17122800](https://www.wikidata.org/wiki/Q17122800)  
**Source**: https://4ort.xyz/entity/desbuquois-dysplasia


## References

1. Disease Ontology
2. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000103489/Orphanet_1425)
4. Identification of CANT1 mutations in Desbuquois dysplasia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171302/Orphanet_1425)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)