Home › Entities › genetic_disease › COFS syndrome

COFS syndrome

disease
MedicalCondition genetic_disease Q29014951
Press Enter · cited answer in seconds

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 is a type of Pena-Shokeir syndrome[4].
  • COFS syndrome is a type of Cockayne syndrome[5].
  • COFS syndrome is a type of demyelinating disease[6].
  • COFS syndrome's NCI Thesaurus ID is recorded as C3817[7].
  • COFS syndrome's genetic association is recorded as ERCC1[8].
  • COFS syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1317[9].
  • COFS syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1466[10].

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] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). 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)

Canonical URL: https://4ort.xyz/entity/cofs-syndrome · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 7w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0008926
    Genetic association → ERCC1
    Gard rare disease id → 1060
    Orphanet id → 1466, 1317
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.