# Kniest dysplasia

> Human disease

**Wikidata**: [Q6422092](https://www.wikidata.org/wiki/Q6422092)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Kniest_dysplasia)  
**Source**: https://4ort.xyz/entity/kniest-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25a49ec9-69ab-4e51-a13a-fe1eaa50ae56-2021-12-15T183542.376Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007987)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)