Leber congenital amaurosis

retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness
MedicalCondition rare_disease Q1811132
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Leber congenital amaurosis

Summary

Leber congenital amaurosis is a rare disease[1]. It draws 74 Wikipedia views per month (rare_disease category, ranking #166 of 627).[2]

Key Facts

  • Leber congenital amaurosis's instance of is recorded as rare disease[3].
  • Leber congenital amaurosis's instance of is recorded as class of disease[4].
  • Theodor Leber is named after Leber congenital amaurosis[5].
  • Leber congenital amaurosis's subclass of is recorded as retinal disease[6].
  • Leber congenital amaurosis's subclass of is recorded as disease[7].
  • Leber congenital amaurosis's Commons category is recorded as Leber's congenital amaurosis[8].
  • Leber congenital amaurosis's MeSH descriptor ID is recorded as D057130[9].
  • Leber congenital amaurosis's OMIM ID is recorded as 204000[10].
  • Leber congenital amaurosis's DiseasesDB is recorded as 33192[11].
  • Leber congenital amaurosis's Freebase ID is recorded as /m/07z8sz[12].
  • Leber congenital amaurosis's KEGG ID is recorded as H00837[13].
  • Leber congenital amaurosis's GeneReviews ID is recorded as NBK1298[14].
  • Leber congenital amaurosis's MeSH tree code is recorded as C11.270.516[15].
  • Leber congenital amaurosis's MeSH tree code is recorded as C11.768.364[16].
  • Leber congenital amaurosis's Disease Ontology ID is recorded as DOID:14791[17].
  • Leber congenital amaurosis's Encyclopædia Britannica Online ID is recorded as science/Lebers-disease[18].
  • Leber congenital amaurosis's Orphanet ID is recorded as 65[19].
  • Leber congenital amaurosis's NCI Thesaurus ID is recorded as C129075[20].
  • Leber congenital amaurosis's health specialty is recorded as ophthalmology[21].
  • Leber congenital amaurosis's genetic association is recorded as GUCY2D[22].
  • Leber congenital amaurosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14791[23].
  • Leber congenital amaurosis's exact match is recorded as http://identifiers.org/doid/DOID:14791[24].
  • Leber congenital amaurosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_65[25].
  • Leber congenital amaurosis's UMLS CUI is recorded as C0339527[26].
  • Leber congenital amaurosis's GARD rare disease ID is recorded as 634[27].

Why It Matters

Leber congenital amaurosis draws 74 Wikipedia views per month (rare_disease category, ranking #166 of 627).[2] It has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[28] It is known by 16 alternative names across languages and contexts.[29]

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] . Disease Ontology. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Freebase Data Dumps. wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . Disease Ontology. Retrieved . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . Disease Ontology. Retrieved . wikidata.org.
  18. [20] . Disease Ontology. Retrieved . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. wikidata.org.
  21. [23] . Disease Ontology. Retrieved . wikidata.org.
  22. [24] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . Disease Ontology. Retrieved . wikidata.org.
  25. [27] . Disease Ontology. Retrieved . wikidata.org.

Class ancestry

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

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] . Wikidata sitelinks. wikidata.org.
  3. [29] . 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). Leber congenital amaurosis. Retrieved May 3, 2026, from https://4ort.xyz/entity/leber-congenital-amaurosis
MLA “Leber congenital amaurosis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/leber-congenital-amaurosis.
BibTeX @misc{4ortxyz_leber-congenital-amaurosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Leber congenital amaurosis}}, year = {2026}, url = {https://4ort.xyz/entity/leber-congenital-amaurosis}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Leber congenital amaurosis — https://4ort.xyz/entity/leber-congenital-amaurosis (retrieved 2026-05-03)

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