autosomal dominant optic atrophy and cataract

gene (19q13.32).

MedicalCondition class_of_disease Q55345670

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autosomal dominant optic atrophy and cataract

Summary

autosomal dominant optic atrophy and cataract is a class of disease^[1].

Key Facts

autosomal dominant optic atrophy and cataract's instance of is recorded as class of disease^[2].
autosomal dominant optic atrophy and cataract is a type of autosomal dominant optic atrophy^[3].
autosomal dominant optic atrophy and cataract is a type of optic atrophy^[4].
autosomal dominant optic atrophy and cataract is a type of autosomal dominant disease^[5].
autosomal dominant optic atrophy and cataract's genetic association is recorded as OPA3^[6].
autosomal dominant optic atrophy and cataract's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_67036^[7].
autosomal dominant optic atrophy and cataract's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111433^[8].
autosomal dominant optic atrophy and cataract's exact match is recorded as http://identifiers.org/doid/DOID:0111433^[9].

⭐ Popularity Graph

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Quick Facts

Instance of class of disease

Subclass of autosomal dominant optic atrophy, optic atrophy, autosomal dominant disease

Properties

Exact match www.orpha.net, purl.obolibrary.org, identifiers.org

Genetic association OPA3

External References (11)

Disease ontology id DOID:0111433

Gard rare disease id 10203

Genetics home reference conditions id autosomal-dominant-optic-atrophy-and-cataract

Icd-10-cm H47.2

Icd-11 id (foundation) 1789029893

Mesh descriptor id C537128

Mondo id MONDO_0008133

Omim id 165300

Orphanet id 67036

Umls cui C1833809

Uniprot disease id DI-02098

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant optic atrophy and cataract — instance of (P31): class of disease. wikidata.org.
[3] ↑ autosomal dominant optic atrophy and cataract — subclass of (P279): autosomal dominant optic atrophy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[4] ↑ autosomal dominant optic atrophy and cataract — subclass of (P279): optic atrophy. Disease Ontology. Retrieved 2020-11-24. wikidata.org.
[5] ↑ autosomal dominant optic atrophy and cataract — subclass of (P279): autosomal dominant disease. Disease Ontology. Retrieved 2020-11-24. wikidata.org.
[6] ↑ autosomal dominant optic atrophy and cataract — genetic association (P2293): OPA3. Open Targets Platform. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[7] ↑ autosomal dominant optic atrophy and cataract — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_67036. wikidata.org.
[8] ↑ autosomal dominant optic atrophy and cataract — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111433. Disease Ontology. Retrieved 2020-11-24. wikidata.org.
[9] ↑ autosomal dominant optic atrophy and cataract — exact match (P2888): http://identifiers.org/doid/DOID:0111433. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ autosomal dominant optic atrophy and cataract is an instance of class of disease (Q112193867) [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). autosomal dominant optic atrophy and cataract. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-optic-atrophy-and-cataract

MLA

“autosomal dominant optic atrophy and cataract.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-optic-atrophy-and-cataract.

BibTeX

@misc{4ortxyz_autosomal-dominant-optic-atrophy-and-cataract_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant optic atrophy and cataract}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-optic-atrophy-and-cataract}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal dominant optic atrophy and cataract — https://4ort.xyz/entity/autosomal-dominant-optic-atrophy-and-cataract (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-optic-atrophy-and-cataract · 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 · 2026-07-05 view diff on Wikidata ↗

Mondo id → MONDO_0008133

Imported from → —

Genetics home reference conditions id → autosomal-dominant-optic-atrophy-and-cataract

Umls cui → C1833809

+ 13 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)"

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