# spondyloepiphyseal dysplasia, Kimberley type

> Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy

**Wikidata**: [Q55783572](https://www.wikidata.org/wiki/Q55783572)  
**Source**: https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-kimberley-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis