Leber congenital amaurosis 14

Leber congenital amaurosis that has material basis in mutation in the LRAT gene on chromosome 4q31

Class type of: Leber congenital amaurosis, genetic disease, autosomal recessive disease Q27677651

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Summary

Leber congenital amaurosis 14 is a rare disease^[1]. It is a type of Leber congenital amaurosis^[2], genetic disease^[3], and autosomal recessive disease^[4].

Key Facts

Instance of: class of disease^[5]
Genetic association: LRAT^[6]
On focus list of Wikimedia project: WikiProject Medicine^[7]

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Quick Facts

Instance of rare disease, class of disease

Subclass of Leber congenital amaurosis, genetic disease, autosomal recessive disease

Properties

Genetic association LRAT

On focus list of wikimedia project WikiProject Medicine

Identifiers (9)

Disease ontology id DOID:0110188

Exact match purl.obolibrary.org, identifiers.org

Gard rare disease id 10883

Icd-10-cm H35.5

Mesh descriptor id C567636

Mondo id MONDO_0013231

Omim id 613341

Umls cui C2750065, C2750064, C2750063

Uniprot disease id DI-02683

🏷️ Also known as

en LCA14 en Leber congenital amaurosis 14 en LEBER CONGENITAL AMAUROSIS 14; LCA14 en Leber Congenital Amaurosis type 14 en Retinal Dystrophy, Early-Onset Severe, Lrat-Related en Retinitis Pigmentosa, Juvenile, Lrat-Related

References

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

Direct Wikidata claims

[5] ↑ Leber congenital amaurosis 14 — instance of (P31): class of disease. wikidata.org.
[2] ↑ Leber congenital amaurosis 14 — subclass of (P279): Leber congenital amaurosis. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[3] ↑ Leber congenital amaurosis 14 — subclass of (P279): genetic disease. Disease Ontology. Retrieved 2019-05-15. wikidata.org.
[4] ↑ Leber congenital amaurosis 14 — subclass of (P279): autosomal recessive disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ Leber congenital amaurosis 14 — genetic association (P2293): LRAT. UniProt. Retrieved 2019-08-13. wikidata.org.
[7] ↑ Leber congenital amaurosis 14 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ Leber congenital amaurosis 14 is an instance of rare disease (Q929833) [P31, primary]. 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). Leber congenital amaurosis 14. Retrieved October 30, 2026, from https://4ort.xyz/entity/leber-congenital-amaurosis-14

MLA

“Leber congenital amaurosis 14.” 4ort.xyz Knowledge Graph, 4ort.xyz, 30 Oct. 2026, https://4ort.xyz/entity/leber-congenital-amaurosis-14.

BibTeX

@misc{4ortxyz_leber-congenital-amaurosis-14_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Leber congenital amaurosis 14}}, year = {2026}, url = {https://4ort.xyz/entity/leber-congenital-amaurosis-14}, note = {Accessed: 2026-10-30}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Leber congenital amaurosis 14 — https://4ort.xyz/entity/leber-congenital-amaurosis-14 (retrieved 2026-10-30)

Canonical URL: https://4ort.xyz/entity/leber-congenital-amaurosis-14 · Last refreshed: October 30, 2026

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.

17w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Mondo id → MONDO_0013231

Imported from → —

Umls cui → C2750065, C2750064, C2750063

Disease ontology id → DOID:0110188

+ 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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