# Spondyloperipheral dysplasia

> medical condition

**Wikidata**: [Q7578959](https://www.wikidata.org/wiki/Q7578959)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Spondyloperipheral_dysplasia)  
**Source**: https://4ort.xyz/entity/spondyloperipheral-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4da6e1f-5aad-4541-a3ae-76ed4782a023-2022-01-06T154807.494Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0010078)
6. UMLS 2023