autosomal recessive nonsyndromic deafness 1B

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in the GJB6 gene on chromosome 13q12

MedicalCondition head_and_neck_disease Q28024601

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Summary

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

Key Facts

autosomal recessive nonsyndromic deafness 1B's instance of is recorded as head and neck disease^[2].
autosomal recessive nonsyndromic deafness 1B's instance of is recorded as rare disease^[3].
autosomal recessive nonsyndromic deafness 1B's instance of is recorded as class of disease^[4].
autosomal recessive nonsyndromic deafness 1B is a type of autosomal recessive nonsyndromic deafness^[5].
autosomal recessive nonsyndromic deafness 1B's genetic association is recorded as GJB6^[6].
autosomal recessive nonsyndromic deafness 1B's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110476^[7].
autosomal recessive nonsyndromic deafness 1B's exact match is recorded as http://identifiers.org/doid/DOID:0110476^[8].
autosomal recessive nonsyndromic deafness 1B'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 GJB6

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0110476

Icd-10-cm H90.3

Mesh descriptor id C567213

Mondo id MONDO_0012977

Omim id 612645

Umls cui C2675235

Uniprot disease id DI-00853

🏷️ Also known as

en autosomal recessive deafness 1B en autosomal recessive nonsyndromic deafness 1B en autosomal recessive nonsyndromic deafness type 1B en DEAFNESS, AUTOSOMAL RECESSIVE 1B en DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B en Deafness, Autosomal Recessive type 1B en DFNB1B

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive nonsyndromic deafness 1B — 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 1B — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal recessive nonsyndromic deafness 1B — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal recessive nonsyndromic deafness 1B — subclass of (P279): autosomal recessive nonsyndromic deafness. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[6] ↑ autosomal recessive nonsyndromic deafness 1B — genetic association (P2293): GJB6. UniProt. Retrieved 2019-08-13. wikidata.org.
[7] ↑ autosomal recessive nonsyndromic deafness 1B — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110476. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[8] ↑ autosomal recessive nonsyndromic deafness 1B — exact match (P2888): http://identifiers.org/doid/DOID:0110476. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[9] ↑ autosomal recessive nonsyndromic deafness 1B — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

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

MLA

“autosomal recessive nonsyndromic deafness 1B.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-1b.

BibTeX

@misc{4ortxyz_autosomal-recessive-nonsyndromic-deafness-1b_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive nonsyndromic deafness 1B}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-1b}, 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 1B — https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-1b (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-1b · 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_0012977

Genetic association → GJB6

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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