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bestrophinopathy

Human disease
Class type of: macular degeneration, fundus dystrophy Q18553385

Facts

6 properties
Instance of
rare disease, class of disease[4]
Subclass of
macular degeneration, fundus dystrophy
Age of onset
any age[7]
Genetic association
BEST1[6]
On focus list of Wikimedia project
WikiProject Medicine[8]
Prevalence
+0.000001[5]
🏷️ Also known as
en ARB en autosomal recessive bestrophinopathy en bestrophinopathy en BESTROPHINOPATHY, AUTOSOMAL RECESSIVE en BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB en Retinopathy, Burgess-Black type fr bestrophinopathie
🔖 Identifiers · 10
Disease Ontology ID
DOID:0050662
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
ICD-10-CM
H35.5
ICD-11 ID (Foundation)
760377585
MeSH descriptor ID
C567518
Mondo ID
MONDO_0012733
OMIM ID
611809
Orphanet ID
139455
Raras disease ID
D139455
UMLS CUI
C3888198, C2678493

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Summary

bestrophinopathy is a rare disease[1]. bestrophinopathy is a type of macular degeneration[2] and fundus dystrophy[3].

References

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

Direct Wikidata claims

  1. [4] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Retrieved . wikidata.org.
  5. [6] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . 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). bestrophinopathy. Retrieved October 23, 2026, from https://4ort.xyz/entity/bestrophinopathy
MLA “bestrophinopathy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/bestrophinopathy.
BibTeX @misc{4ortxyz_bestrophinopathy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{bestrophinopathy}}, year = {2026}, url = {https://4ort.xyz/entity/bestrophinopathy}, note = {Accessed: 2026-10-23}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): bestrophinopathy — https://4ort.xyz/entity/bestrophinopathy (retrieved 2026-10-23)

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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. 20d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    MeSH descriptor ID → C567518
    Mondo ID → MONDO_0012733
    Instance of → rare disease, class of disease
    Exact match → http://purl.obolibrary.org/obo/DOID_0050662, http://identifiers.org/doid/DOID:0050662, http://www.orpha.net/ORDO/Orphanet_139455
    + 13 other properties edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
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