Cockayne syndrome

rare and fatal autosomal recessive neurodegenerative disorder
MedicalCondition designated_intractable_rare_disease Q914389
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Cockayne syndrome

Summary

Cockayne syndrome is a designated intractable/rare disease[1]. It draws 1,090 Wikipedia views per month (designated_intractable_rare_disease category, ranking #83 of 201).[2]

Key Facts

  • Cockayne syndrome's instance of is recorded as designated intractable/rare disease[3].
  • Cockayne syndrome's instance of is recorded as rare disease[4].
  • Cockayne syndrome's instance of is recorded as class of disease[5].
  • Edward Alfred Cockayne is named after Cockayne syndrome[6].
  • Cockayne syndrome is a type of autosomal recessive disease[7].
  • Cockayne syndrome is a type of eye degenerative disease[8].
  • Cockayne syndrome is a type of nervous system heredodegenerative disease[9].
  • Cockayne syndrome is a type of disease[10].
  • Cockayne syndrome's Commons category is recorded as Cockayne syndrome[11].
  • Cockayne syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4435[12].
  • Cockayne syndrome's ICD-9-CM is recorded as 759.89[13].
  • Cockayne syndrome's NCI Thesaurus ID is recorded as C9460[14].
  • Cockayne syndrome's health specialty is recorded as medical genetics[15].
  • Cockayne syndrome's health specialty is recorded as neurology[16].
  • Cockayne syndrome's health specialty is recorded as dermatology[17].
  • Cockayne syndrome's genetic association is recorded as ERCC2[18].
  • Cockayne syndrome's genetic association is recorded as ERCC6[19].
  • Cockayne syndrome's genetic association is recorded as ERCC1[20].
  • Cockayne syndrome's genetic association is recorded as ERCC5[21].
  • Cockayne syndrome's genetic association is recorded as ERCC8[22].
  • Cockayne syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_2962[23].
  • Cockayne syndrome's exact match is recorded as http://identifiers.org/doid/DOID:2962[24].
  • Cockayne syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_191[25].
  • Cockayne syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90321[26].
  • Cockayne syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90322[27].

Why It Matters

Cockayne syndrome draws 1,090 Wikipedia views per month (designated_intractable_rare_disease category, ranking #83 of 201).[2] It has Wikipedia articles in 14 language editions, a strong signal of global cultural recognition.[28] It is known by 12 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] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. wikidata.org.
  17. [19] . Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.. wikidata.org.
  18. [20] . First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. wikidata.org.
  19. [21] . Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. wikidata.org.
  20. [22] . The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  21. [23] . Disease Ontology. Retrieved . wikidata.org.
  22. [24] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . 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.

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APA 4ort.xyz Knowledge Graph. (2026). Cockayne syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/cockayne-syndrome
MLA “Cockayne syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/cockayne-syndrome.
BibTeX @misc{4ortxyz_cockayne-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Cockayne syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/cockayne-syndrome}, note = {Accessed: 2026-05-03}}
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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. 21d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of autosomal recessive disease, eye degenerative disease, nervous system heredodegenerative disease +1
    Named after
    Health specialty medical genetics, neurology, dermatology
    Genetic association ERCC2, ERCC6, ERCC1 +2
    + 7 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
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