Joubert syndrome

genetic disorder affecting the cerebellum
MedicalCondition designated_intractable_rare_disease Q1101694
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Joubert syndrome

Summary

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

Key Facts

  • Joubert syndrome's instance of is recorded as designated intractable/rare disease[3].
  • Joubert syndrome's instance of is recorded as rare disease[4].
  • Joubert syndrome's instance of is recorded as class of disease[5].
  • Marie Joubert is named after Joubert syndrome[6].
  • Joubert syndrome is a type of ciliopathy[7].
  • Joubert syndrome is a type of autosomal recessive[8].
  • Joubert syndrome is a type of Joubert syndrome and related disorders[9].
  • Joubert syndrome is a type of encephalopathy[10].
  • Joubert syndrome's Commons category is recorded as Joubert syndrome[11].
  • Joubert syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4552[12].
  • Joubert syndrome's NCI Thesaurus ID is recorded as C74996[13].
  • Joubert syndrome's health specialty is recorded as medical genetics[14].
  • Joubert syndrome's genetic association is recorded as TMEM231[15].
  • Joubert syndrome's genetic association is recorded as MKS1[16].
  • Joubert syndrome's genetic association is recorded as B9D1[17].
  • Joubert syndrome's genetic association is recorded as CEP104[18].
  • Joubert syndrome's genetic association is recorded as KIAA0586[19].
  • Joubert syndrome's genetic association is recorded as CSPP1[20].
  • Joubert syndrome's genetic association is recorded as CPLANE1[21].
  • Joubert syndrome's genetic association is recorded as TCTN1[22].
  • Joubert syndrome's genetic association is recorded as KATNIP[23].
  • Joubert syndrome's genetic association is recorded as TMEM67[24].
  • Joubert syndrome's genetic association is recorded as INPP5E[25].
  • Joubert syndrome's genetic association is recorded as TCTN2[26].
  • Joubert syndrome's genetic association is recorded as CEP41[27].

Why It Matters

Joubert syndrome has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[2] It is known by 21 alternative names across languages and contexts.[28]

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] . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . 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] . wikidata.org.
  13. [15] . Mutations in TMEM231 cause Joubert syndrome in French Canadians. wikidata.org.
  14. [16] . Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] . Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. wikidata.org.
  16. [18] . Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [19] . KIAA0586 is Mutated in Joubert Syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  18. [20] . Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [21] . Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. wikidata.org.
  20. [22] . A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  21. [23] . KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. wikidata.org.
  22. [24] . The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  23. [25] . Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  24. [26] . Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  25. [27] . CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Retrieved . platform.opentargets.org. Provenance: wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [28] . Wikidata aliases. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). Joubert syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/joubert-syndrome
MLA “Joubert syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/joubert-syndrome.
BibTeX @misc{4ortxyz_joubert-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Joubert syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/joubert-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. 12d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    On focus list of wikimedia project WikiProject Medicine
    Health specialty medical genetics
    Named after
    Subclass of ciliopathy, autosomal recessive, Joubert syndrome and related disorders +1
    + 7 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)"
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