autosomal recessive nonsyndromic deafness 53

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the COL11A2 gene on chromosome 6p21

MedicalCondition head_and_neck_disease Q28024636

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Summary

autosomal recessive nonsyndromic deafness 53 is a head and neck disease^[1].

Key Facts

autosomal recessive nonsyndromic deafness 53's instance of is recorded as head and neck disease^[2].
autosomal recessive nonsyndromic deafness 53's instance of is recorded as rare disease^[3].
autosomal recessive nonsyndromic deafness 53's instance of is recorded as class of disease^[4].
autosomal recessive nonsyndromic deafness 53 is a type of autosomal recessive nonsyndromic deafness^[5].
autosomal recessive nonsyndromic deafness 53's genetic association is recorded as COL11A2^[6].
autosomal recessive nonsyndromic deafness 53's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110509^[7].
autosomal recessive nonsyndromic deafness 53's exact match is recorded as http://identifiers.org/doid/DOID:0110509^[8].
autosomal recessive nonsyndromic deafness 53'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 COL11A2

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0110509

Icd-10-cm H90.3

Mesh descriptor id C566453

Mondo id MONDO_0012333

Omim id 609706

Umls cui C1864746

Uniprot disease id DI-00876

🏷️ Also known as

en autosomal recessive deafness 53 en autosomal recessive nonsyndromic deafness 53 en autosomal recessive nonsyndromic deafness type 53 en DEAFNESS, AUTOSOMAL RECESSIVE 53 en DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53 en Deafness, Autosomal Recessive type 53 en DFNB53

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive nonsyndromic deafness 53 — 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 53 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal recessive nonsyndromic deafness 53 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal recessive nonsyndromic deafness 53 — subclass of (P279): autosomal recessive nonsyndromic deafness. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[6] ↑ autosomal recessive nonsyndromic deafness 53 — genetic association (P2293): COL11A2. UniProt. Retrieved 2019-08-13. wikidata.org.
[7] ↑ autosomal recessive nonsyndromic deafness 53 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110509. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[8] ↑ autosomal recessive nonsyndromic deafness 53 — exact match (P2888): http://identifiers.org/doid/DOID:0110509. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[9] ↑ autosomal recessive nonsyndromic deafness 53 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive nonsyndromic deafness 53 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 53. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-53

MLA

“autosomal recessive nonsyndromic deafness 53.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-53.

BibTeX

@misc{4ortxyz_autosomal-recessive-nonsyndromic-deafness-53_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive nonsyndromic deafness 53}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-53}, 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 53 — https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-53 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-53 · 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_0012333

Genetic association → COL11A2

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"

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