autosomal recessive nonsyndromic deafness 84A

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the PTPRQ gene on chromosome 12q21

MedicalCondition rare_disease Q28024656

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Summary

autosomal recessive nonsyndromic deafness 84A is a rare disease^[1].

Key Facts

autosomal recessive nonsyndromic deafness 84A's instance of is recorded as rare disease^[2].
autosomal recessive nonsyndromic deafness 84A's instance of is recorded as class of disease^[3].
autosomal recessive nonsyndromic deafness 84A's subclass of is recorded as autosomal recessive nonsyndromic deafness^[4].
autosomal recessive nonsyndromic deafness 84A's OMIM ID is recorded as 613391^[5].
autosomal recessive nonsyndromic deafness 84A's Disease Ontology ID is recorded as DOID:0110529^[6].
autosomal recessive nonsyndromic deafness 84A's genetic association is recorded as PTPRQ^[7].
autosomal recessive nonsyndromic deafness 84A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110529^[8].
autosomal recessive nonsyndromic deafness 84A's exact match is recorded as http://identifiers.org/doid/DOID:0110529^[9].
autosomal recessive nonsyndromic deafness 84A's UMLS CUI is recorded as C3150654^[10].
autosomal recessive nonsyndromic deafness 84A's ICD-10-CM is recorded as H90.3^[11].
autosomal recessive nonsyndromic deafness 84A's on focus list of Wikimedia project is recorded as WikiProject Medicine^[12].
autosomal recessive nonsyndromic deafness 84A's Mondo ID is recorded as MONDO_0013249^[13].
autosomal recessive nonsyndromic deafness 84A's UniProt disease ID is recorded as DI-02691^[14].

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Quick Facts

Instance of rare disease, class of disease

Subclass of autosomal recessive nonsyndromic deafness

Properties

Exact match purl.obolibrary.org, identifiers.org

Genetic association PTPRQ

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (6)

Disease ontology id DOID:0110529

Icd-10-cm H90.3

Mondo id MONDO_0013249

Omim id 613391

Umls cui C3150654

Uniprot disease id DI-02691

🏷️ Also known as

en autosomal recessive deafness 84A en autosomal recessive deafness 84A with vestibular dysfunction en autosomal recessive nonsyndromic deafness 84A en autosomal recessive nonsyndromic deafness type 84A en Deafness, Autosomal Recessive 84 en DEAFNESS, AUTOSOMAL RECESSIVE 84A en DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A en Deafness, Autosomal Recessive 84A, With Vestibular Dysfunction en Deafness, Autosomal Recessive type 84A en DFNB84A

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive nonsyndromic deafness 84A — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal recessive nonsyndromic deafness 84A — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal recessive nonsyndromic deafness 84A — subclass of (P279): autosomal recessive nonsyndromic deafness. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[5] ↑ autosomal recessive nonsyndromic deafness 84A — OMIM ID (P492): 613391. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[6] ↑ autosomal recessive nonsyndromic deafness 84A — Disease Ontology ID (P699): DOID:0110529. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[7] ↑ autosomal recessive nonsyndromic deafness 84A — genetic association (P2293): PTPRQ. UniProt. Retrieved 2019-08-13. wikidata.org.
[8] ↑ autosomal recessive nonsyndromic deafness 84A — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110529. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[9] ↑ autosomal recessive nonsyndromic deafness 84A — exact match (P2888): http://identifiers.org/doid/DOID:0110529. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[10] ↑ autosomal recessive nonsyndromic deafness 84A — UMLS CUI (P2892): C3150654. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-08-07. wikidata.org.
[11] ↑ autosomal recessive nonsyndromic deafness 84A — ICD-10-CM (P4229): H90.3. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[12] ↑ autosomal recessive nonsyndromic deafness 84A — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[13] ↑ autosomal recessive nonsyndromic deafness 84A — Mondo ID (P5270): MONDO_0013249. wikidata.org.
[14] ↑ autosomal recessive nonsyndromic deafness 84A — UniProt disease ID (P11430): DI-02691. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive nonsyndromic deafness 84A is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

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APA

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MLA

“autosomal recessive nonsyndromic deafness 84A.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-84a.

BibTeX

@misc{4ortxyz_autosomal-recessive-nonsyndromic-deafness-84a_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive nonsyndromic deafness 84A}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-84a}, 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 84A — https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-84a (retrieved 2026-05-03)

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