# Ehlers-Danlos syndrome, cardiac valvular type
**Wikidata**: [Q55781853](https://www.wikidata.org/wiki/Q55781853)  
**Source**: https://4ort.xyz/entity/ehlers-danlos-syndrome-cardiac-valvular-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164692/MONDO_0009159)
5. UMLS 2023