autosomal recessive progressive external ophthalmoplegia

Autosomal recessive form of progressive external ophthalmoplegia

Class type of: chronic progressive external ophthalmoplegia Q56013891

Press Enter · cited answer in seconds

Summary

autosomal recessive progressive external ophthalmoplegia is a class of disease^[1]. It is a type of chronic progressive external ophthalmoplegia^[2].

Key Facts

Mode of inheritance: autosomal recessive^[3]
Genetic association: POLG^[4], RRM1^[5], TK2^[6], TOP3A^[7]
Age of onset: any age^[8]
P14914: D254886^[9]

⭐ Popularity Graph

0/100 long tail

Quick Facts

Instance of class of disease

Subclass of chronic progressive external ophthalmoplegia

Properties

Age of onset any age

Genetic association POLG, RRM1, TK2, TOP3A

Mode of inheritance autosomal recessive

P14914 D254886

Identifiers (8)

Exact match www.orpha.net

Icd-10-cm H49.4

Icd-11 id (foundation) 1440469708

Kegg id H01395

Mesh descriptor id C564926

Mondo id MONDO_0016810

Orphanet id 254886

Umls cui C1850303

🏷️ Also known as

en arPEO en autosomal recessive progressive external ophthalmoplegia en progressive external ophthalmoplegia, autosomal recessive

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive progressive external ophthalmoplegia — subclass of (P279): chronic progressive external ophthalmoplegia. wikidata.org.
[3] ↑ autosomal recessive progressive external ophthalmoplegia — mode of inheritance (P1199): autosomal recessive. wikidata.org.
[4] ↑ autosomal recessive progressive external ophthalmoplegia — genetic association (P2293): POLG. Open Targets Platform. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[5] ↑ autosomal recessive progressive external ophthalmoplegia — genetic association (P2293): RRM1. Retrieved 2026-10-23. wikidata.org.
[6] ↑ autosomal recessive progressive external ophthalmoplegia — genetic association (P2293): TK2. Retrieved 2026-10-23. wikidata.org.
[7] ↑ autosomal recessive progressive external ophthalmoplegia — genetic association (P2293): TOP3A. Retrieved 2026-10-23. wikidata.org.
[8] ↑ autosomal recessive progressive external ophthalmoplegia — age of onset (P2841): any age. Retrieved 2026-10-23. wikidata.org.
[9] ↑ autosomal recessive progressive external ophthalmoplegia — P14914 (P14914): D254886. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive progressive external ophthalmoplegia 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 recessive progressive external ophthalmoplegia. Retrieved October 23, 2026, from https://4ort.xyz/entity/autosomal-recessive-progressive-external-ophthalmoplegia

MLA

“autosomal recessive progressive external ophthalmoplegia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/autosomal-recessive-progressive-external-ophthalmoplegia.

BibTeX

@misc{4ortxyz_autosomal-recessive-progressive-external-ophthalmoplegia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive progressive external ophthalmoplegia}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-progressive-external-ophthalmoplegia}, note = {Accessed: 2026-10-23}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive progressive external ophthalmoplegia — https://4ort.xyz/entity/autosomal-recessive-progressive-external-ophthalmoplegia (retrieved 2026-10-23)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-progressive-external-ophthalmoplegia · Last refreshed: October 23, 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.

8d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗

Mode of inheritance → autosomal recessive

Mesh descriptor id → C564926

Mondo id → MONDO_0016810

Instance of → class of disease

+ 13 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"

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