Stickler syndrome

rare genetic disorder affecting collagen
MedicalCondition rare_disease Q2288646
Press Enter · cited answer in seconds

Stickler syndrome

Summary

Stickler syndrome is a rare disease[1]. It has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • Stickler syndrome's instance of is recorded as rare disease[3].
  • Stickler syndrome's instance of is recorded as class of disease[4].
  • Gunnar B. Stickler is named after Stickler syndrome[5].
  • Stickler syndrome is a type of autosomal dominant disease[6].
  • Stickler syndrome is a type of nervous system heredodegenerative disease[7].
  • Stickler syndrome is a type of vitreoretinal degeneration[8].
  • Stickler syndrome is a type of syndrome[9].
  • Stickler syndrome is a type of disease[10].
  • Stickler syndrome's Commons category is recorded as Stickler syndrome[11].
  • Stickler syndrome's ICD-9-CM is recorded as 759.89[12].
  • Stickler syndrome's NCI Thesaurus ID is recorded as C74984[13].
  • Stickler syndrome's health specialty is recorded as medical genetics[14].
  • Stickler syndrome's genetic association is recorded as COL9A2[15].
  • Stickler syndrome's genetic association is recorded as COL9A1[16].
  • Stickler syndrome's genetic association is recorded as COL2A1[17].
  • Stickler syndrome's genetic association is recorded as COL11A1[18].
  • Stickler syndrome's genetic association is recorded as COL11A2[19].
  • Stickler syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080046[20].
  • Stickler syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0080046[21].
  • Stickler syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_828[22].
  • Stickler syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].

Why It Matters

Stickler syndrome has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[2] It is known by 7 alternative names across languages and contexts.[24]

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . 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] . A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. wikidata.org.
  14. [16] . A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. wikidata.org.
  15. [17] . A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [18] . A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. wikidata.org.
  17. [19] . Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [24] . 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). Stickler syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/stickler-syndrome
MLA “Stickler syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/stickler-syndrome.
BibTeX @misc{4ortxyz_stickler-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Stickler syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/stickler-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Stickler syndrome — https://4ort.xyz/entity/stickler-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/stickler-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. 17d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Named after
    Health specialty medical genetics
    Genetic association COL9A2, COL9A1, COL2A1 +2
    Subclass of
    + 6 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"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.