# spondyloepimetaphyseal dysplasia, aggrecan type

> Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings

**Wikidata**: [Q55783935](https://www.wikidata.org/wiki/Q55783935)  
**Source**: https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-aggrecan-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000157766/MONDO_0013014)