Cole-Carpenter syndrome

osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance
MedicalCondition rare_disease Q21127479
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Cole-Carpenter syndrome

Summary

Cole-Carpenter syndrome is a rare disease[1]. It draws 3 Wikipedia views per month (rare_disease category, ranking #235 of 627).[2]

Key Facts

  • Cole-Carpenter syndrome's instance of is recorded as rare disease[3].
  • Cole-Carpenter syndrome's instance of is recorded as class of disease[4].
  • Cole-Carpenter syndrome's subclass of is recorded as osteogenesis imperfecta[5].
  • Cole-Carpenter syndrome's MeSH descriptor ID is recorded as C535963[6].
  • Cole-Carpenter syndrome's OMIM ID is recorded as 112240[7].
  • Cole-Carpenter syndrome's OMIM ID is recorded as 616294[8].
  • Cole-Carpenter syndrome's KEGG ID is recorded as H01572[9].
  • Cole-Carpenter syndrome's Disease Ontology ID is recorded as DOID:0060438[10].
  • Cole-Carpenter syndrome's symptoms and signs is recorded as ptosis[11].
  • Cole-Carpenter syndrome's Orphanet ID is recorded as 2050[12].
  • Cole-Carpenter syndrome's NCI Thesaurus ID is recorded as C130985[13].
  • Cole-Carpenter syndrome's health specialty is recorded as medical genetics[14].
  • Cole-Carpenter syndrome's genetic association is recorded as SEC24D[15].
  • Cole-Carpenter syndrome's genetic association is recorded as P4HB[16].
  • Cole-Carpenter syndrome's Google Knowledge Graph ID is recorded as /g/11h23hl466[17].
  • Cole-Carpenter syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060438[18].
  • Cole-Carpenter syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060438[19].
  • Cole-Carpenter syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2050[20].
  • Cole-Carpenter syndrome's UMLS CUI is recorded as C1862178[21].
  • Cole-Carpenter syndrome's ICD-10-CM is recorded as Q78.0[22].
  • Cole-Carpenter syndrome's GARD rare disease ID is recorded as 1425[23].
  • Cole-Carpenter syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
  • Cole-Carpenter syndrome's Mondo ID is recorded as MONDO_0016085[25].
  • Cole-Carpenter syndrome's WikiProjectMed ID is recorded as Cole–Carpenter syndrome[26].

Why It Matters

Cole-Carpenter syndrome draws 3 Wikipedia views per month (rare_disease category, ranking #235 of 627).[2]

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. wikidata.org.
  14. [16] ↑ . Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [19] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [20] ↑ . wikidata.org.
  19. [21] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [22] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [23] ↑ . wikidata.org.
  22. [24] ↑ . wikidata.org.
  23. [25] ↑ . wikidata.org.
  24. [26] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.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). Cole-Carpenter syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cole-carpenter-syndrome
MLA “Cole-Carpenter syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cole-carpenter-syndrome.
BibTeX @misc{4ortxyz_cole-carpenter-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Cole-Carpenter syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cole-carpenter-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Cole-Carpenter syndrome — https://4ort.xyz/entity/cole-carpenter-syndrome (retrieved 2026-05-03)

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