# ciliopathy

> genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia

**Wikidata**: [Q203031](https://www.wikidata.org/wiki/Q203031)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ciliopathy)  
**Source**: https://4ort.xyz/entity/ciliopathy


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122735/EFO_0003900)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/15e32789-4f24-4870-94d3-b5618e67509f--2018-04-27T16:51:36)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15e32789-4f24-4870-94d3-b5618e67509f-2018-04-27T165136.294Z)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_477c8aba-eeba-43dc-a5e2-f6f84b127b8f-2021-10-13T160000.000Z)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f380d4b-6d0b-4c09-a3ae-ec34bc8ecb8d-2021-07-14T160000.000Z)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_961b81f6-7ad1-49e2-b675-c035b4d8d35d-2021-10-27T160000.000Z)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. WikiUMLS: Aligning UMLS to Wikipedia via Cross-lingual Neural Ranking
12. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)