achromatopsia

human illness, a type of color blindness
MedicalCondition rare_disease Q432396
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achromatopsia

Summary

achromatopsia is a rare disease[1]. achromatopsia draws 37 Wikipedia views per month (rare_disease category, ranking #78 of 627).[2]

Key Facts

  • achromatopsia's instance of is recorded as rare disease[3].
  • achromatopsia's instance of is recorded as class of disease[4].
  • achromatopsia is a type of monochromacy[5].
  • achromatopsia is a type of color blindness[6].
  • achromatopsia's Commons category is recorded as Achromatopsia[7].
  • achromatopsia's afflicts is recorded as rod cell[8].
  • achromatopsia's symptoms and signs is recorded as photophobia[9].
  • achromatopsia's symptoms and signs is recorded as amblyopia[10].
  • achromatopsia's symptoms and signs is recorded as nystagmus[11].
  • achromatopsia's described by source is recorded as The Unified Medical Dictionary (Librairie du Liban, 2009)[12].
  • achromatopsia's ICD-9-CM is recorded as 368.54[13].
  • achromatopsia's NCI Thesaurus ID is recorded as C84528[14].
  • achromatopsia's health specialty is recorded as ophthalmology[15].
  • achromatopsia's genetic association is recorded as ATF6[16].
  • achromatopsia's genetic association is recorded as CNGA3[17].
  • achromatopsia's genetic association is recorded as GNAT2[18].
  • achromatopsia's genetic association is recorded as CNGB3[19].
  • achromatopsia's genetic association is recorded as PDE6C[20].
  • achromatopsia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_13911[21].
  • achromatopsia's exact match is recorded as http://identifiers.org/doid/DOID:13911[22].
  • achromatopsia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_49382[23].
  • achromatopsia's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].

Why It Matters

achromatopsia draws 37 Wikipedia views per month (rare_disease category, ranking #78 of 627).[2] achromatopsia has Wikipedia articles in 16 language editions, a strong signal of global cultural recognition.[25] achromatopsia is known by 39 alternative names across languages and contexts.[26]

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] ↑ . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . Mutation of ATF6 causes autosomal recessive achromatopsia. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [17] ↑ . Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [18] ↑ . Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. wikidata.org.
  17. [19] ↑ . Genetic basis of total colourblindness among the Pingelapese islanders. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  18. [20] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [21] ↑ . Disease Ontology. Retrieved . wikidata.org.
  20. [22] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  21. [23] ↑ . wikidata.org.
  22. [24] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [25] ↑ . Wikidata sitelinks. wikidata.org.
  3. [26] ↑ . Wikidata aliases. 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). achromatopsia. Retrieved October 4, 2026, from https://4ort.xyz/entity/achromatopsia
MLA “achromatopsia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 4 Oct. 2026, https://4ort.xyz/entity/achromatopsia.
BibTeX @misc{4ortxyz_achromatopsia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{achromatopsia}}, year = {2026}, url = {https://4ort.xyz/entity/achromatopsia}, note = {Accessed: 2026-10-04}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): achromatopsia — https://4ort.xyz/entity/achromatopsia (retrieved 2026-10-04)

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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. 5d ago · Mishary94 · 2026-10-01 view diff on Wikidata ↗
    Wikipedia languages → ['ar', 'bs', 'ca', 'commons', 'da', 'de', 'en', 'es', 'et', 'eu', 'fa', 'fr', 'g
    Described by source → The Unified Medical Dictionary (Librairie du Liban, 2009)
    Sitelink count → 23
    Claims rich → —
    "/* wbsetclaim-create:2||1 */ [[Property:P1343]]: [[Q113466993]]"
  2. 13w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → monochromacy, color blindness
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
  3. 20w ago · Twofivesixbot bot · 2026-05-19 view diff on Wikidata ↗
    Yso id → 4645
    Subclass of → monochromacy, color blindness
    Instance of → —
    Aliases → —
    + 7 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|5 */ [[Property:P2347]]: 4645, mv to monolingual text names on YSO statements"
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