# spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

> medical condition

**Wikidata**: [Q7578954](https://www.wikidata.org/wiki/Q7578954)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Spondylo-meta-epiphyseal_dysplasia)  
**Source**: https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000162733/MONDO_0010077)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000162733/Orphanet_93358)
6. UMLS 2023