congenital fibrosis of the extraocular muscles

ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position
MedicalCondition rare_disease Q4990874
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congenital fibrosis of the extraocular muscles

Summary

congenital fibrosis of the extraocular muscles is a rare disease[1]. It draws 2 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

Key Facts

  • congenital fibrosis of the extraocular muscles's instance of is recorded as rare disease[3].
  • congenital fibrosis of the extraocular muscles's instance of is recorded as class of disease[4].
  • congenital fibrosis of the extraocular muscles's subclass of is recorded as ocular motility disease[5].
  • congenital fibrosis of the extraocular muscles's subclass of is recorded as muscular fibrosis[6].
  • congenital fibrosis of the extraocular muscles's MeSH descriptor ID is recorded as C567572[7].
  • congenital fibrosis of the extraocular muscles's OMIM ID is recorded as 135700[8].
  • congenital fibrosis of the extraocular muscles's OMIM ID is recorded as 602078[9].
  • congenital fibrosis of the extraocular muscles's OMIM ID is recorded as 609384[10].
  • congenital fibrosis of the extraocular muscles's OMIM ID is recorded as 609428[11].
  • congenital fibrosis of the extraocular muscles's OMIM ID is recorded as 616219[12].
  • congenital fibrosis of the extraocular muscles's OMIM ID is recorded as 600638[13].
  • congenital fibrosis of the extraocular muscles's KEGG ID is recorded as H00838[14].
  • congenital fibrosis of the extraocular muscles's Disease Ontology ID is recorded as DOID:0080143[15].
  • congenital fibrosis of the extraocular muscles's genetic association is recorded as TUBB3[16].
  • congenital fibrosis of the extraocular muscles's genetic association is recorded as COL25A1[17].
  • congenital fibrosis of the extraocular muscles's genetic association is recorded as KIF21A[18].
  • congenital fibrosis of the extraocular muscles's genetic association is recorded as PHOX2A[19].
  • congenital fibrosis of the extraocular muscles's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080143[20].
  • congenital fibrosis of the extraocular muscles's exact match is recorded as http://identifiers.org/doid/DOID:0080143[21].
  • congenital fibrosis of the extraocular muscles's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_45358[22].
  • congenital fibrosis of the extraocular muscles's UMLS CUI is recorded as C2748801[23].
  • congenital fibrosis of the extraocular muscles's GARD rare disease ID is recorded as 12590[24].
  • congenital fibrosis of the extraocular muscles's GARD rare disease ID is recorded as 9814[25].
  • congenital fibrosis of the extraocular muscles's on focus list of Wikimedia project is recorded as WikiProject Medicine[26].
  • congenital fibrosis of the extraocular muscles's Mondo ID is recorded as MONDO_0010912[27].

Why It Matters

congenital fibrosis of the extraocular muscles draws 2 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

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] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] . Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. wikidata.org.
  16. [18] . Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [19] . Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [24] . Disease Ontology. Retrieved . wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.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). congenital fibrosis of the extraocular muscles. Retrieved May 3, 2026, from https://4ort.xyz/entity/congenital-fibrosis-of-the-extraocular-muscles
MLA “congenital fibrosis of the extraocular muscles.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/congenital-fibrosis-of-the-extraocular-muscles.
BibTeX @misc{4ortxyz_congenital-fibrosis-of-the-extraocular-muscles_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital fibrosis of the extraocular muscles}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-fibrosis-of-the-extraocular-muscles}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): congenital fibrosis of the extraocular muscles — https://4ort.xyz/entity/congenital-fibrosis-of-the-extraocular-muscles (retrieved 2026-05-03)

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