Blau syndrome

autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes
MedicalCondition designated_intractable_rare_disease Q441077
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Blau syndrome

Summary

Blau syndrome is a designated intractable/rare disease[1]. It draws 40 Wikipedia views per month (designated_intractable_rare_disease category, ranking #145 of 201).[2]

Key Facts

  • Blau syndrome's instance of is recorded as designated intractable/rare disease[3].
  • Blau syndrome's instance of is recorded as rare disease[4].
  • Blau syndrome's instance of is recorded as class of disease[5].
  • Blau syndrome is a type of autosomal dominant disease[6].
  • Blau syndrome is a type of periodic fever syndrome[7].
  • Blau syndrome is a type of rare genetic eye disease[8].
  • Blau syndrome is a type of secondary interstitial lung disease specific to childhood associated with a granulomatous disease[9].
  • Blau syndrome is a type of systemic diseases with panuveitis[10].
  • Blau syndrome is a type of systemic diseases with anterior uveitis[11].
  • Blau syndrome is a type of autoinflammatory syndrome with skin involvement[12].
  • Blau syndrome is a type of autoinflammatory syndrome with immune deficiency[13].
  • Blau syndrome is a type of rare genetic respiratory disease[14].
  • Blau syndrome is a type of granulomatous autoinflammatory syndrome[15].
  • Blau syndrome is a type of syndrome[16].
  • Blau syndrome's Commons category is recorded as Blau syndrome[17].
  • Blau syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/3826[18].
  • Blau syndrome's ICD-9-CM is recorded as 714.89[19].
  • Blau syndrome's ICD-9-CM is recorded as 692.9[20].
  • Blau syndrome's NCI Thesaurus ID is recorded as C116794[21].
  • Blau syndrome's health specialty is recorded as dermatology[22].
  • Blau syndrome's genetic association is recorded as NOD2[23].
  • Blau syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050678[24].
  • Blau syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050678[25].
  • Blau syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90340[26].
  • Blau syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[27].

Why It Matters

Blau syndrome draws 40 Wikipedia views per month (designated_intractable_rare_disease category, ranking #145 of 201).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[28] It is known by 17 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] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . 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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Monarch Disease Ontology release 2018-06-29. 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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  17. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [20] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [21] . Disease Ontology. Retrieved . wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  22. [24] . Disease Ontology. Retrieved . wikidata.org.
  23. [25] . Identifiers.org. registry.identifiers.org. Provenance: 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.

📑 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). Blau syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/blau-syndrome
MLA “Blau syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/blau-syndrome.
BibTeX @misc{4ortxyz_blau-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Blau syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/blau-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Blau syndrome — https://4ort.xyz/entity/blau-syndrome (retrieved 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. 14d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    On focus list of wikimedia project WikiProject Medicine
    Health specialty dermatology
    Subclass of autosomal dominant disease, periodic fever syndrome, rare genetic eye disease +8
    Subclass of
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.