Leber congenital amaurosis 6

Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has material basis in mutation in the RPGRIP1 gene on chromosome 14q11
MedicalCondition rare_disease Q27677729
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Leber congenital amaurosis 6

Summary

Leber congenital amaurosis 6 is a rare disease[1].

Key Facts

  • Leber congenital amaurosis 6's instance of is recorded as rare disease[2].
  • Leber congenital amaurosis 6's instance of is recorded as class of disease[3].
  • Leber congenital amaurosis 6 is a type of Leber congenital amaurosis[4].
  • Leber congenital amaurosis 6 is a type of genetic disease[5].
  • Leber congenital amaurosis 6 is a type of autosomal recessive disease[6].
  • Leber congenital amaurosis 6's genetic association is recorded as RPGRIP1[7].
  • Leber congenital amaurosis 6's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110329[8].
  • Leber congenital amaurosis 6's exact match is recorded as http://identifiers.org/doid/DOID:0110329[9].
  • Leber congenital amaurosis 6's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].

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APA 4ort.xyz Knowledge Graph. (2026). Leber congenital amaurosis 6. Retrieved May 3, 2026, from https://4ort.xyz/entity/leber-congenital-amaurosis-6
MLA “Leber congenital amaurosis 6.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/leber-congenital-amaurosis-6.
BibTeX @misc{4ortxyz_leber-congenital-amaurosis-6_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Leber congenital amaurosis 6}}, year = {2026}, url = {https://4ort.xyz/entity/leber-congenital-amaurosis-6}, 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 6 — https://4ort.xyz/entity/leber-congenital-amaurosis-6 (retrieved 2026-05-03)

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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. 1d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id MONDO_0013446
    Imported from
    Umls cui C1854260
    Disease ontology id DOID:0110329
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
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