# spondyloepimetaphyseal dysplasia, Strudwick type

> Human disease

**Wikidata**: [Q2123641](https://www.wikidata.org/wiki/Q2123641)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type)  
**Source**: https://4ort.xyz/entity/spondyloepimetaphyseal-dysplasia-strudwick-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0008476)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/Orphanet_93346)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023