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Joubert syndrome with orofaciodigital defect

Joubert syndrome subtype with orofaciodigital defect
MedicalCondition rare_disease Q3508580
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Joubert syndrome with orofaciodigital defect

Summary

Joubert syndrome with orofaciodigital defect is a rare disease[1].

Key Facts

  • Joubert syndrome with orofaciodigital defect's instance of is recorded as rare disease[2].
  • Joubert syndrome with orofaciodigital defect's instance of is recorded as class of disease[3].
  • Joubert syndrome with orofaciodigital defect's subclass of is recorded as oral-facial-digital syndrome[4].
  • Joubert syndrome with orofaciodigital defect's subclass of is recorded as Joubert syndrome[5].
  • Joubert syndrome with orofaciodigital defect's MeSH descriptor ID is recorded as C536531[6].
  • Joubert syndrome with orofaciodigital defect's OMIM ID is recorded as 277170[7].
  • Joubert syndrome with orofaciodigital defect's Disease Ontology ID is recorded as DOID:0060376[8].
  • Joubert syndrome with orofaciodigital defect's Orphanet ID is recorded as 2754[9].
  • Joubert syndrome with orofaciodigital defect's NCI Thesaurus ID is recorded as C124841[10].
  • Joubert syndrome with orofaciodigital defect's genetic association is recorded as CPLANE1[11].
  • Joubert syndrome with orofaciodigital defect's genetic association is recorded as KIAA0753[12].
  • Joubert syndrome with orofaciodigital defect's genetic association is recorded as PDE6D[13].
  • Joubert syndrome with orofaciodigital defect's genetic association is recorded as OFD1[14].
  • Joubert syndrome with orofaciodigital defect's genetic association is recorded as TCTN3[15].
  • Joubert syndrome with orofaciodigital defect's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060376[16].
  • Joubert syndrome with orofaciodigital defect's exact match is recorded as http://identifiers.org/doid/DOID:0060376[17].
  • Joubert syndrome with orofaciodigital defect's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2754[18].
  • Joubert syndrome with orofaciodigital defect's UMLS CUI is recorded as C2745997[19].
  • Joubert syndrome with orofaciodigital defect's ICD-10-CM is recorded as Q04.3[20].
  • Joubert syndrome with orofaciodigital defect's GARD rare disease ID is recorded as 4412[21].
  • Joubert syndrome with orofaciodigital defect's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
  • Joubert syndrome with orofaciodigital defect's Mondo ID is recorded as MONDO_0010176[23].
  • Joubert syndrome with orofaciodigital defect's ICD-11 ID is recorded as 1990646046[24].
  • Joubert syndrome with orofaciodigital defect's UniProt disease ID is recorded as DI-04278[25].

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] ↑ . OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.. wikidata.org.
  12. [13] ↑ . A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. wikidata.org.
  13. [14] ↑ . OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [15] ↑ . TCTN3 mutations cause Mohr-Majewski syndrome. wikidata.org.
  15. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . Disease Ontology. Retrieved . wikidata.org.
  19. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [22] ↑ . wikidata.org.
  22. [23] ↑ . wikidata.org.
  23. [24] ↑ . wikidata.org.
  24. [25] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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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). Joubert syndrome with orofaciodigital defect. Retrieved May 3, 2026, from https://4ort.xyz/entity/joubert-syndrome-with-orofaciodigital-defect
MLA “Joubert syndrome with orofaciodigital defect.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/joubert-syndrome-with-orofaciodigital-defect.
BibTeX @misc{4ortxyz_joubert-syndrome-with-orofaciodigital-defect_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Joubert syndrome with orofaciodigital defect}}, year = {2026}, url = {https://4ort.xyz/entity/joubert-syndrome-with-orofaciodigital-defect}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Joubert syndrome with orofaciodigital defect — https://4ort.xyz/entity/joubert-syndrome-with-orofaciodigital-defect (retrieved 2026-05-03)

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