autosomal recessive nonsyndromic deafness 36

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the ESPN gene on chromosome 1p36

MedicalCondition head_and_neck_disease Q28024621

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Summary

autosomal recessive nonsyndromic deafness 36 is a head and neck disease^[1].

Key Facts

autosomal recessive nonsyndromic deafness 36's instance of is recorded as head and neck disease^[2].
autosomal recessive nonsyndromic deafness 36's instance of is recorded as rare disease^[3].
autosomal recessive nonsyndromic deafness 36's instance of is recorded as class of disease^[4].
autosomal recessive nonsyndromic deafness 36 is a type of autosomal recessive nonsyndromic deafness^[5].
autosomal recessive nonsyndromic deafness 36's genetic association is recorded as ESPN^[6].
autosomal recessive nonsyndromic deafness 36's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110494^[7].
autosomal recessive nonsyndromic deafness 36's exact match is recorded as http://identifiers.org/doid/DOID:0110494^[8].
autosomal recessive nonsyndromic deafness 36's on focus list of Wikimedia project is recorded as WikiProject Medicine^[9].

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Quick Facts

Instance of rare disease, class of disease

Subclass of autosomal recessive nonsyndromic deafness, head and neck disease

Properties

Exact match purl.obolibrary.org, identifiers.org

Genetic association ESPN

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0110494

Icd-10-cm H90.3

Mesh descriptor id C563815

Mondo id MONDO_0012170

Omim id 609006

Umls cui C1837007, C3149566, C3496242

Uniprot disease id DI-00873

🏷️ Also known as

en autosomal recessive deafness 36 en autosomal recessive nonsyndromic deafness 36 en autosomal recessive nonsyndromic deafness type 36 en Deafness, Autosomal Dominant, Without Vestibular Involvement en DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT en DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36 en DFNB36

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive nonsyndromic deafness 36 — instance of (P31): head and neck disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ autosomal recessive nonsyndromic deafness 36 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal recessive nonsyndromic deafness 36 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal recessive nonsyndromic deafness 36 — subclass of (P279): autosomal recessive nonsyndromic deafness. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ autosomal recessive nonsyndromic deafness 36 — genetic association (P2293): ESPN. UniProt. Retrieved 2019-08-13. wikidata.org.
[7] ↑ autosomal recessive nonsyndromic deafness 36 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110494. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[8] ↑ autosomal recessive nonsyndromic deafness 36 — exact match (P2888): http://identifiers.org/doid/DOID:0110494. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[9] ↑ autosomal recessive nonsyndromic deafness 36 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive nonsyndromic deafness 36 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 recessive nonsyndromic deafness 36. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-36

MLA

“autosomal recessive nonsyndromic deafness 36.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-36.

BibTeX

@misc{4ortxyz_autosomal-recessive-nonsyndromic-deafness-36_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive nonsyndromic deafness 36}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-36}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive nonsyndromic deafness 36 — https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-36 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-36 · 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.

15w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0012170

Genetic association → ESPN

Instance of → head and neck disease, rare disease, class of disease

Imported from → —

+ 10 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"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.