Joubert syndrome with oculorenal defect

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease

MedicalCondition genetic_disease Q9390209

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Summary

Joubert syndrome with oculorenal defect is a genetic disease^[1].

Key Facts

Joubert syndrome with oculorenal defect's instance of is recorded as genetic disease^[2].
Joubert syndrome with oculorenal defect's instance of is recorded as class of disease^[3].
Joubert syndrome with oculorenal defect is a type of Joubert syndrome^[4].
Joubert syndrome with oculorenal defect is a type of Joubert syndrome and related disorders^[5].
Joubert syndrome with oculorenal defect's genetic association is recorded as TMEM138^[6].
Joubert syndrome with oculorenal defect's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2318^[7].

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Quick Facts

Instance of class of disease

Subclass of Joubert syndrome, Joubert syndrome and related disorders, genetic disease

Properties

Exact match www.orpha.net

Genetic association TMEM138

External References (9)

Gard rare disease id 9455

Google knowledge graph id /g/1218rzvg

Icd-10-cm Q04.3

Kegg id H01811

Mesh descriptor id C537430

Mondo id MONDO_0009480

Omim id 243910

Orphanet id 2318

Umls cui C1855675

🌐 Available in 2 languages

fiAriman oireyhtymä plZespół Arimy

🏷️ Also known as

en Arima syndrome en Cerebello-oculo-renal syndrome en Cerebellooculorenal syndrome en Cerebro-oculo-hepato-renal syndrome en Cerebrooculohepatorenal Syndrome en Chorioretinal coloboma with cerebellar vermis aplasia en Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia en CORS en Dekaban Arima syndrome en Dekaban-Arima syndrome en Joubert syndrome 5 en Joubert Syndrome With Bilateral Chorioretinal Coloboma en Joubert syndrome with oculorenal anomalies en Joubert syndrome with oculorenal defect en Joubert syndrome with Senior-Loken syndrome en JS-OR en JS type B fi Ariman oireyhtymä fi Ariman syndrooma fr Syndrome de Dekaban-Arima

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

[2] ↑ Joubert syndrome with oculorenal defect — instance of (P31): genetic disease. wikidata.org.
[3] ↑ Joubert syndrome with oculorenal defect — instance of (P31): class of disease. wikidata.org.
[4] ↑ Joubert syndrome with oculorenal defect — subclass of (P279): Joubert syndrome. wikidata.org.
[5] ↑ Joubert syndrome with oculorenal defect — subclass of (P279): Joubert syndrome and related disorders. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[6] ↑ Joubert syndrome with oculorenal defect — genetic association (P2293): TMEM138. Open Targets Platform. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[7] ↑ Joubert syndrome with oculorenal defect — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_2318. wikidata.org.

Class ancestry

[1] ↑ Joubert syndrome with oculorenal defect is an instance of genetic disease (Q200779) [P31, primary]. 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 oculorenal defect. Retrieved May 3, 2026, from https://4ort.xyz/entity/joubert-syndrome-with-oculorenal-defect

MLA

“Joubert syndrome with oculorenal defect.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/joubert-syndrome-with-oculorenal-defect.

BibTeX

@misc{4ortxyz_joubert-syndrome-with-oculorenal-defect_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Joubert syndrome with oculorenal defect}}, year = {2026}, url = {https://4ort.xyz/entity/joubert-syndrome-with-oculorenal-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 oculorenal defect — https://4ort.xyz/entity/joubert-syndrome-with-oculorenal-defect (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/joubert-syndrome-with-oculorenal-defect · Last refreshed: May 3, 2026

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.

15w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0009480

Genetic association → TMEM138

Gard rare disease id → 9455

Orphanet id → 2318

+ 11 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"

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