COFS syndrome

disease
MedicalCondition genetic_disease Q29014951
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COFS syndrome

Summary

COFS syndrome is a genetic disease[1].

Key Facts

  • COFS syndrome's instance of is recorded as genetic disease[2].
  • COFS syndrome's instance of is recorded as class of disease[3].
  • COFS syndrome's subclass of is recorded as Pena-Shokeir syndrome[4].
  • COFS syndrome's subclass of is recorded as Cockayne syndrome[5].
  • COFS syndrome's subclass of is recorded as demyelinating disease[6].
  • COFS syndrome's MeSH descriptor ID is recorded as C537965[7].
  • COFS syndrome's OMIM ID is recorded as 212540[8].
  • COFS syndrome's OMIM ID is recorded as 214150[9].
  • COFS syndrome's Orphanet ID is recorded as 1466[10].
  • COFS syndrome's Orphanet ID is recorded as 1317[11].
  • COFS syndrome's NCI Thesaurus ID is recorded as C3817[12].
  • COFS syndrome's genetic association is recorded as ERCC1[13].
  • COFS syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1317[14].
  • COFS syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1466[15].
  • COFS syndrome's UMLS CUI is recorded as C1859312[16].
  • COFS syndrome's UMLS CUI is recorded as C2931277[17].
  • COFS syndrome's UMLS CUI is recorded as C0220722[18].
  • COFS syndrome's UMLS CUI is recorded as C1876169[19].
  • COFS syndrome's UMLS CUI is recorded as C5399761[20].
  • COFS syndrome's ICD-10-CM is recorded as Q87.1[21].
  • COFS syndrome's GARD rare disease ID is recorded as 1060[22].
  • COFS syndrome's Mondo ID is recorded as MONDO_0008926[23].
  • COFS syndrome's ICD-11 ID is recorded as 2067824754[24].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [14] . wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] . UMLS 2023. Retrieved . wikidata.org.
  20. [21] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [22] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [23] . wikidata.org.
  23. [24] . wikidata.org.

Class ancestry

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

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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). COFS syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cofs-syndrome
MLA “COFS syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cofs-syndrome.
BibTeX @misc{4ortxyz_cofs-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{COFS syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cofs-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): COFS syndrome — https://4ort.xyz/entity/cofs-syndrome (retrieved 2026-05-03)

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