autosomal dominant retinal vasculopathy with cerebral leukodystrophy

human disease

MedicalCondition head_and_neck_disease Q18209717

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autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Summary

autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a head and neck disease^[1].

Key Facts

autosomal dominant retinal vasculopathy with cerebral leukodystrophy's instance of is recorded as head and neck disease^[2].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's instance of is recorded as rare disease^[3].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's instance of is recorded as class of disease^[4].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of hereditary retinal dystrophy^[5].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of disease of glomerular basement membrane^[6].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of rare genetic immune disease^[7].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of type 1 interferonopathy^[8].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of genetic cerebral small vessel disease^[9].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of autoimmune connective tissue disorder^[10].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of genetic otorhinolaryngologic disease^[11].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of genetic vascular disease^[12].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of vascular disease^[13].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a type of autosomal dominant disease^[14].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's genetic association is recorded as TREX1^[15].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_247691^[16].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3421^[17].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_63261^[18].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_71291^[19].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111567^[20].
autosomal dominant retinal vasculopathy with cerebral leukodystrophy's exact match is recorded as http://identifiers.org/doid/DOID:0111567^[21].

⭐ Popularity Graph

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Quick Facts

Instance of rare disease, class of disease

Subclass of hereditary retinal dystrophy, disease of glomerular basement membrane, rare genetic immune disease, type 1 interferonopathy, genetic cerebral small vessel disease, autoimmune connective tissue disorder, genetic otorhinolaryngologic disease, genetic vascular disease, vascular disease, autosomal dominant disease, head and neck disease

Properties

Exact match www.orpha.net, www.orpha.net, www.orpha.net, www.orpha.net, purl.obolibrary.org, identifiers.org

Genetic association TREX1

External References (12)

Disease ontology id DOID:0111567

Freebase id /m/010hmggx

Gard rare disease id 1.2k (1.2k–11k, n=3)

Icd-11 id (foundation) 554838792

Icd-11 id (mms) 9B78.0

Kegg id H01000

Mesh descriptor id C566007

Microsoft academic id (discontinued) 2779597901, 2908830146

Mondo id MONDO_0008641

Omim id 192315

Orphanet id 63k (3.4k–248k, n=4)

Umls cui C1860518

🌐 Available in 2 languages

enRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations kaბადურას ვასკულოპათია ცერებრალური ლეიკოენცეფალოპათიით

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — instance of (P31): head and neck disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): hereditary retinal dystrophy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): disease of glomerular basement membrane. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): rare genetic immune disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): type 1 interferonopathy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): genetic cerebral small vessel disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[10] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): autoimmune connective tissue disorder. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): genetic otorhinolaryngologic disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[12] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): genetic vascular disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[13] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): vascular disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[14] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — subclass of (P279): autosomal dominant disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[15] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — genetic association (P2293): TREX1. Q905695. Retrieved 2019-08-13. platform.opentargets.org. Provenance: wikidata.org.
[16] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_247691. wikidata.org.
[17] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_3421. wikidata.org.
[18] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_63261. wikidata.org.
[19] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_71291. wikidata.org.
[20] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111567. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[21] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy — exact match (P2888): http://identifiers.org/doid/DOID:0111567. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ autosomal dominant retinal vasculopathy with cerebral leukodystrophy is an instance of head and neck disease (Q55789477) [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). autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-retinal-vasculopathy-with-cerebral-leukodystrophy

MLA

“autosomal dominant retinal vasculopathy with cerebral leukodystrophy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-retinal-vasculopathy-with-cerebral-leukodystrophy.

BibTeX

@misc{4ortxyz_autosomal-dominant-retinal-vasculopathy-with-cerebral-leukodystrophy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant retinal vasculopathy with cerebral leukodystrophy}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-retinal-vasculopathy-with-cerebral-leukodystrophy}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal dominant retinal vasculopathy with cerebral leukodystrophy — https://4ort.xyz/entity/autosomal-dominant-retinal-vasculopathy-with-cerebral-leukodystrophy (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-dominant-retinal-vasculopathy-with-cerebral-leukodystrophy · Last refreshed: May 3, 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.

2d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0008641

Orphanet id → 3421, 247691, 71291 +1

Freebase id → /m/010hmggx

Imported from → —

+ 14 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"

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