# spondyloepiphyseal dysplasia, Stanescu type

> human disease

**Wikidata**: [Q55784940](https://www.wikidata.org/wiki/Q55784940)  
**Source**: https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-stanescu-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0014701)