achromatopsia 4

achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13
MedicalCondition class_of_disease Q27677587
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achromatopsia 4

Summary

achromatopsia 4 is a class of disease[1].

Key Facts

  • achromatopsia 4's instance of is recorded as class of disease[2].
  • achromatopsia 4's subclass of is recorded as achromatopsia[3].
  • achromatopsia 4's MeSH descriptor ID is recorded as C564206[4].
  • achromatopsia 4's OMIM ID is recorded as 613856[5].
  • achromatopsia 4's Disease Ontology ID is recorded as DOID:0110010[6].
  • achromatopsia 4's genetic association is recorded as GNAT2[7].
  • achromatopsia 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110010[8].
  • achromatopsia 4's exact match is recorded as http://identifiers.org/doid/DOID:0110010[9].
  • achromatopsia 4's UMLS CUI is recorded as C1841721[10].
  • achromatopsia 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
  • achromatopsia 4's Mondo ID is recorded as MONDO_0013465[12].
  • achromatopsia 4's UniProt disease ID is recorded as DI-01166[13].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . Disease Ontology. Retrieved . wikidata.org.
  3. [4] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Q905695. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . wikidata.org.

Class ancestry

  1. [1] . 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). achromatopsia 4. Retrieved May 3, 2026, from https://4ort.xyz/entity/achromatopsia-4
MLA “achromatopsia 4.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/achromatopsia-4.
BibTeX @misc{4ortxyz_achromatopsia-4_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{achromatopsia 4}}, year = {2026}, url = {https://4ort.xyz/entity/achromatopsia-4}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): achromatopsia 4 — https://4ort.xyz/entity/achromatopsia-4 (retrieved 2026-05-03)

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