# primary ciliary dyskinesia 20

> Human disease

**Wikidata**: [Q28024759](https://www.wikidata.org/wiki/Q28024759)  
**Source**: https://4ort.xyz/entity/primary-ciliary-dyskinesia-20


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
5. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)