ciliopathy

genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia
MedicalCondition rare_disease Q203031
ciliopathy
LadyofHats · Public Domain · Wikimedia
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ciliopathy

Summary

ciliopathy is a rare disease[1]. ciliopathy draws 46 Wikipedia views per month (rare_disease category, ranking #200 of 627).[2]

Key Facts

  • ciliopathy's image is recorded as Eukaryotic cilium diagram en.svg[3].
  • ciliopathy's instance of is recorded as rare disease[4].
  • ciliopathy's instance of is recorded as class of disease[5].
  • ciliopathy's subclass of is recorded as syndrome[6].
  • ciliopathy's subclass of is recorded as genetic disease[7].
  • ciliopathy's subclass of is recorded as monogenic disease[8].
  • ciliopathy's subclass of is recorded as disease[9].
  • ciliopathy's Commons category is recorded as Ciliopathies[10].
  • ciliopathy's MeSH descriptor ID is recorded as D000072661[11].
  • ciliopathy's DiseasesDB is recorded as 29887[12].
  • ciliopathy's Freebase ID is recorded as /m/04crk2s[13].
  • ciliopathy's MeSH tree code is recorded as C16.131.077.245[14].
  • ciliopathy's MeSH tree code is recorded as C16.320.184[15].
  • ciliopathy's Disease Ontology ID is recorded as DOID:0060340[16].
  • ciliopathy's topic's main category is recorded as Category:Ciliopathy[17].
  • ciliopathy's Orphanet ID is recorded as 363250[18].
  • ciliopathy's health specialty is recorded as medical genetics[19].
  • ciliopathy's genetic association is recorded as DNAI1[20].
  • ciliopathy's genetic association is recorded as OFD1[21].
  • ciliopathy's genetic association is recorded as DCDC2[22].
  • ciliopathy's genetic association is recorded as TMEM67[23].
  • ciliopathy's genetic association is recorded as CEP164[24].
  • ciliopathy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060340[25].
  • ciliopathy's exact match is recorded as http://identifiers.org/doid/DOID:0060340[26].
  • ciliopathy's UMLS CUI is recorded as C4277690[27].

Why It Matters

ciliopathy draws 46 Wikipedia views per month (rare_disease category, ranking #200 of 627).[2] ciliopathy has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[28] ciliopathy is known by 4 alternative names across languages and contexts.[29]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . Freebase Data Dumps. wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [21] . ClinGen. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  20. [22] . ClinGen. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  21. [23] . ClinGen. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  22. [24] . ClinGen. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  23. [25] . Disease Ontology. Retrieved . wikidata.org.
  24. [26] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  25. [27] . WikiUMLS: Aligning UMLS to Wikipedia via Cross-lingual Neural Ranking. wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] . Wikidata sitelinks. wikidata.org.
  3. [29] . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). ciliopathy. Retrieved May 3, 2026, from https://4ort.xyz/entity/ciliopathy
MLA “ciliopathy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/ciliopathy.
BibTeX @misc{4ortxyz_ciliopathy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{ciliopathy}}, year = {2026}, url = {https://4ort.xyz/entity/ciliopathy}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): ciliopathy — https://4ort.xyz/entity/ciliopathy (retrieved 2026-05-03)

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