# spondyloepiphyseal dysplasia with congenital joint dislocations

> spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints

**Wikidata**: [Q18553493](https://www.wikidata.org/wiki/Q18553493)  
**Source**: https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-with-congenital-joint-dislocations


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122863/MONDO_0007738)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)