# mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
**Wikidata**: [Q55783390](https://www.wikidata.org/wiki/Q55783390)  
**Source**: https://4ort.xyz/entity/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0011496)
5. UMLS 2023