cleidocranial dysplasia

osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull
MedicalCondition rare_disease Q781618
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cleidocranial dysplasia

Summary

cleidocranial dysplasia is a rare disease[1]. It ranks in the top 3% of rare_disease entities by monthly Wikipedia readership (1,206 views/month).[2]

Key Facts

  • cleidocranial dysplasia's image is recorded as Marie et Sainton 1.jpg[3].
  • cleidocranial dysplasia's instance of is recorded as rare disease[4].
  • cleidocranial dysplasia's instance of is recorded as class of disease[5].
  • cleidocranial dysplasia's subclass of is recorded as osteochondrodysplasia[6].
  • cleidocranial dysplasia's subclass of is recorded as genetic disease[7].
  • cleidocranial dysplasia's subclass of is recorded as autosomal dominant disease[8].
  • cleidocranial dysplasia's subclass of is recorded as disease[9].
  • cleidocranial dysplasia's Commons category is recorded as Cleidocranial dysostosis[10].
  • cleidocranial dysplasia's MeSH descriptor ID is recorded as D002973[11].
  • cleidocranial dysplasia's OMIM ID is recorded as 119600[12].
  • cleidocranial dysplasia's OMIM ID is recorded as 216330[13].
  • cleidocranial dysplasia's DiseasesDB is recorded as 30594[14].
  • cleidocranial dysplasia's MedlinePlus ID is recorded as 001589[15].
  • cleidocranial dysplasia's Freebase ID is recorded as /m/0b4ywk[16].
  • cleidocranial dysplasia's KEGG ID is recorded as H00521[17].
  • cleidocranial dysplasia's GeneReviews ID is recorded as NBK1513[18].
  • cleidocranial dysplasia's MeSH tree code is recorded as C05.116.099.708.207[19].
  • cleidocranial dysplasia's MeSH tree code is recorded as C05.660.207.207[20].
  • cleidocranial dysplasia's MeSH tree code is recorded as C16.131.621.207.207[21].
  • cleidocranial dysplasia's Disease Ontology ID is recorded as DOID:13994[22].
  • cleidocranial dysplasia's Encyclopædia Britannica Online ID is recorded as science/cleidocranial-dysostosis[23].
  • cleidocranial dysplasia's Orphanet ID is recorded as 1452[24].
  • cleidocranial dysplasia's NCI Thesaurus ID is recorded as C75020[25].
  • cleidocranial dysplasia's health specialty is recorded as medical genetics[26].
  • cleidocranial dysplasia's genetic association is recorded as RUNX2[27].

Why It Matters

cleidocranial dysplasia ranks in the top 3% of rare_disease entities by monthly Wikipedia readership (1,206 views/month).[2] It has Wikipedia articles in 15 language editions, a strong signal of global cultural recognition.[28] It 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] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . Disease Ontology. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Freebase Data Dumps. wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . Disease Ontology. Retrieved . wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . Disease Ontology. Retrieved . wikidata.org.
  23. [25] . Disease Ontology. Retrieved . wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 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). cleidocranial dysplasia. Retrieved May 3, 2026, from https://4ort.xyz/entity/cleidocranial-dysplasia
MLA “cleidocranial dysplasia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cleidocranial-dysplasia.
BibTeX @misc{4ortxyz_cleidocranial-dysplasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cleidocranial dysplasia}}, year = {2026}, url = {https://4ort.xyz/entity/cleidocranial-dysplasia}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cleidocranial dysplasia — https://4ort.xyz/entity/cleidocranial-dysplasia (retrieved 2026-05-03)

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