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Joubert syndrome with renal defect

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy
MedicalCondition rare_disease Q32145858
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Joubert syndrome with renal defect

Summary

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

Key Facts

  • Joubert syndrome with renal defect's instance of is recorded as rare disease[2].
  • Joubert syndrome with renal defect's instance of is recorded as class of disease[3].
  • Joubert syndrome with renal defect's subclass of is recorded as Joubert syndrome[4].
  • Joubert syndrome with renal defect's MeSH descriptor ID is recorded as C536296[5].
  • Joubert syndrome with renal defect's OMIM ID is recorded as 609583[6].
  • Joubert syndrome with renal defect's Disease Ontology ID is recorded as DOID:0110999[7].
  • Joubert syndrome with renal defect's Orphanet ID is recorded as 220497[8].
  • Joubert syndrome with renal defect's NCI Thesaurus ID is recorded as C74997[9].
  • Joubert syndrome with renal defect's genetic association is recorded as NPHP1[10].
  • Joubert syndrome with renal defect's genetic association is recorded as RPGRIP1L[11].
  • Joubert syndrome with renal defect's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110999[12].
  • Joubert syndrome with renal defect's exact match is recorded as http://identifiers.org/doid/DOID:0110999[13].
  • Joubert syndrome with renal defect's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_220497[14].
  • Joubert syndrome with renal defect's UMLS CUI is recorded as C1846790[15].
  • Joubert syndrome with renal defect's UMLS CUI is recorded as C4274117[16].
  • Joubert syndrome with renal defect's ICD-10-CM is recorded as Q61.5[17].
  • Joubert syndrome with renal defect's ICD-10-CM is recorded as Q04.3[18].
  • Joubert syndrome with renal defect's GARD rare disease ID is recorded as 10169[19].
  • Joubert syndrome with renal defect's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
  • Joubert syndrome with renal defect's Mondo ID is recorded as MONDO_0012308[21].

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] ↑ . The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] ↑ . UMLS 2023. Retrieved . wikidata.org.
  16. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] ↑ . wikidata.org.
  20. [21] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). Joubert syndrome with renal defect. Retrieved May 3, 2026, from https://4ort.xyz/entity/joubert-syndrome-with-renal-defect
MLA “Joubert syndrome with renal defect.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/joubert-syndrome-with-renal-defect.
BibTeX @misc{4ortxyz_joubert-syndrome-with-renal-defect_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Joubert syndrome with renal defect}}, year = {2026}, url = {https://4ort.xyz/entity/joubert-syndrome-with-renal-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 renal defect — https://4ort.xyz/entity/joubert-syndrome-with-renal-defect (retrieved 2026-05-03)

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