Joubert syndrome 32

human disease

MedicalCondition developmental_defect_during_embryogenesis Q53661622

Press Enter · cited answer in seconds

Joubert syndrome 32

Summary

Joubert syndrome 32 is a developmental defect during embryogenesis^[1].

Key Facts

Joubert syndrome 32's instance of is recorded as developmental defect during embryogenesis^[2].
Joubert syndrome 32's instance of is recorded as class of disease^[3].
Joubert syndrome 32 is a type of Joubert syndrome^[4].
Joubert syndrome 32's genetic association is recorded as SUFU^[5].
Joubert syndrome 32's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080278^[6].
Joubert syndrome 32's on focus list of Wikimedia project is recorded as WikiProject Medicine^[7].

⭐ Popularity Graph

0/100 long tail

Quick Facts

Instance of class of disease

Subclass of Joubert syndrome, developmental defect during embryogenesis

Properties

Exact match purl.obolibrary.org

Genetic association SUFU

On focus list of wikimedia project WikiProject Medicine

External References (5)

Disease ontology id DOID:0080278

Mondo id MONDO_0033309

Omim id 617757

Umls cui C4540342

Uniprot disease id DI-05134

References

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

Direct Wikidata claims

[2] ↑ Joubert syndrome 32 — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ Joubert syndrome 32 — instance of (P31): class of disease. wikidata.org.
[4] ↑ Joubert syndrome 32 — subclass of (P279): Joubert syndrome. Disease Ontology. Retrieved 2019-05-15. wikidata.org.
[5] ↑ Joubert syndrome 32 — genetic association (P2293): SUFU. Q905695. Retrieved 2019-08-13. wikidata.org.
[6] ↑ Joubert syndrome 32 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0080278. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[7] ↑ Joubert syndrome 32 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ Joubert syndrome 32 is an instance of developmental defect during embryogenesis (Q55788864) [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 32. Retrieved May 3, 2026, from https://4ort.xyz/entity/joubert-syndrome-32

MLA “Joubert syndrome 32.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/joubert-syndrome-32.

BibTeX

@misc{4ortxyz_joubert-syndrome-32_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Joubert syndrome 32}}, year = {2026}, url = {https://4ort.xyz/entity/joubert-syndrome-32}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Joubert syndrome 32 — https://4ort.xyz/entity/joubert-syndrome-32 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/joubert-syndrome-32 · 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.

7w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0033309

Genetic association → SUFU

Instance of → developmental defect during embryogenesis, class of disease

Imported from → —

+ 8 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"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.