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coloboma of iris

congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris
MedicalCondition class_of_disease Q56014419
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Summary

coloboma of iris is a class of disease[1]. It is known by 4 alternative names across languages and contexts.[2]

Key Facts

  • Subclass of: coloboma[3], iris disease[4]
  • NCI Thesaurus ID: C98879[5]
  • Genetic association: ABCB6[6], ACTG1[7], FZD5[8], PAX6[9], SALL2[10]
  • Exact match: http://purl.obolibrary.org/obo/HP_0000612[11], http://www.orpha.net/ORDO/Orphanet_98944[12]
  • P14914: D98944[13]

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] ↑ . Retrieved . wikidata.org.
  5. [7] ↑ . Retrieved . wikidata.org.
  6. [8] ↑ . Retrieved . wikidata.org.
  7. [9] ↑ . Retrieved . wikidata.org.
  8. [10] ↑ . Retrieved . wikidata.org.
  9. [11] ↑ . Human Phenotype Ontology release 2018-03-08. Retrieved . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

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

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APA 4ort.xyz Knowledge Graph. (2026). coloboma of iris. Retrieved October 24, 2026, from https://4ort.xyz/entity/coloboma-of-iris
MLA “coloboma of iris.” 4ort.xyz Knowledge Graph, 4ort.xyz, 24 Oct. 2026, https://4ort.xyz/entity/coloboma-of-iris.
BibTeX @misc{4ortxyz_coloboma-of-iris_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{coloboma of iris}}, year = {2026}, url = {https://4ort.xyz/entity/coloboma-of-iris}, note = {Accessed: 2026-10-24}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): coloboma of iris — https://4ort.xyz/entity/coloboma-of-iris (retrieved 2026-10-24)

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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. 8h ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Human phenotype ontology id → HP:0000612
    Nci thesaurus id → C98879
    Mondo id → MONDO_0020356
    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"
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