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autosomal dominant progressive external ophthalmoplegia

Autosomal dominant form of progressive external ophthalmoplegia
MedicalCondition rare_disease Q55950270
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Summary

autosomal dominant progressive external ophthalmoplegia is a rare disease[1]. It is known by 6 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: chronic progressive external ophthalmoplegia[4]
  • Genetic association: RRM2B[5], POLG[6], TWNK[7], POLG2[8], SLC25A4[9]
  • Age of onset: juvenile onset[10], adult onset[11]
  • Exact match: http://www.orpha.net/ORDO/Orphanet_254892[12]
  • Has phenotype: bipolar disorder[13]
  • P14914: D254892[14]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. wikidata.org.
  4. [6] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  5. [7] ↑ . Retrieved . wikidata.org.
  6. [8] ↑ . Retrieved . wikidata.org.
  7. [9] ↑ . Retrieved . wikidata.org.
  8. [10] ↑ . Retrieved . wikidata.org.
  9. [11] ↑ . Retrieved . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . Retrieved . wikidata.org.
  12. [14] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.org.

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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 progressive external ophthalmoplegia. Retrieved October 23, 2026, from https://4ort.xyz/entity/autosomal-dominant-progressive-external-ophthalmoplegia
MLA “autosomal dominant progressive external ophthalmoplegia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/autosomal-dominant-progressive-external-ophthalmoplegia.
BibTeX @misc{4ortxyz_autosomal-dominant-progressive-external-ophthalmoplegia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant progressive external ophthalmoplegia}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-progressive-external-ophthalmoplegia}, note = {Accessed: 2026-10-23}}
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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.

  1. 6h ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Mesh descriptor id → C563575
    Mondo id → MONDO_0008003
    Instance of → rare disease, class of disease
    Genetic association → RRM2B, POLG, TWNK +2
    + 12 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"
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