autosomal recessive nonsyndromic deafness 104

autosomal recessive nonsyndromic deafness that has material basis in mutation in the FAM65B gene on chromosome 6p22

MedicalCondition head_and_neck_disease Q28024590

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autosomal recessive nonsyndromic deafness 104

Summary

autosomal recessive nonsyndromic deafness 104 is a head and neck disease^[1].

Key Facts

autosomal recessive nonsyndromic deafness 104's instance of is recorded as head and neck disease^[2].
autosomal recessive nonsyndromic deafness 104's instance of is recorded as rare disease^[3].
autosomal recessive nonsyndromic deafness 104's instance of is recorded as class of disease^[4].
autosomal recessive nonsyndromic deafness 104's subclass of is recorded as autosomal recessive nonsyndromic deafness^[5].
autosomal recessive nonsyndromic deafness 104's OMIM ID is recorded as 616515^[6].
autosomal recessive nonsyndromic deafness 104's Disease Ontology ID is recorded as DOID:0110465^[7].
autosomal recessive nonsyndromic deafness 104's genetic association is recorded as RIPOR2^[8].
autosomal recessive nonsyndromic deafness 104's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110465^[9].
autosomal recessive nonsyndromic deafness 104's exact match is recorded as http://identifiers.org/doid/DOID:0110465^[10].
autosomal recessive nonsyndromic deafness 104's UMLS CUI is recorded as C4225298^[11].
autosomal recessive nonsyndromic deafness 104's ICD-10-CM is recorded as H90.3^[12].
autosomal recessive nonsyndromic deafness 104's on focus list of Wikimedia project is recorded as WikiProject Medicine^[13].
autosomal recessive nonsyndromic deafness 104's Mondo ID is recorded as MONDO_0014675^[14].
autosomal recessive nonsyndromic deafness 104's UniProt disease ID is recorded as DI-04500^[15].

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Quick Facts

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

Subclass of autosomal recessive nonsyndromic deafness

Properties

Exact match purl.obolibrary.org, identifiers.org

Genetic association RIPOR2

Imported from wholeness_audit_2026-05-02

On focus list of wikimedia project WikiProject Medicine

External References (6)

Disease ontology id DOID:0110465

Icd-10-cm H90.3

Mondo id MONDO_0014675

Omim id 616515

Umls cui C4225298

Uniprot disease id DI-04500

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive nonsyndromic deafness 104 — 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 104 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal recessive nonsyndromic deafness 104 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal recessive nonsyndromic deafness 104 — subclass of (P279): autosomal recessive nonsyndromic deafness. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[6] ↑ autosomal recessive nonsyndromic deafness 104 — OMIM ID (P492): 616515. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[7] ↑ autosomal recessive nonsyndromic deafness 104 — Disease Ontology ID (P699): DOID:0110465. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[8] ↑ autosomal recessive nonsyndromic deafness 104 — genetic association (P2293): RIPOR2. Q905695. Retrieved 2019-08-13. wikidata.org.
[9] ↑ autosomal recessive nonsyndromic deafness 104 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110465. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[10] ↑ autosomal recessive nonsyndromic deafness 104 — exact match (P2888): http://identifiers.org/doid/DOID:0110465. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[11] ↑ autosomal recessive nonsyndromic deafness 104 — UMLS CUI (P2892): C4225298. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[12] ↑ autosomal recessive nonsyndromic deafness 104 — ICD-10-CM (P4229): H90.3. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[13] ↑ autosomal recessive nonsyndromic deafness 104 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[14] ↑ autosomal recessive nonsyndromic deafness 104 — Mondo ID (P5270): MONDO_0014675. wikidata.org.
[15] ↑ autosomal recessive nonsyndromic deafness 104 — UniProt disease ID (P11430): DI-04500. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive nonsyndromic deafness 104 is an instance of head and neck disease (Q55789477) [P31, primary]. Wikidata. wikidata.org.

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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 104. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-104

MLA

“autosomal recessive nonsyndromic deafness 104.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-104.

BibTeX

@misc{4ortxyz_autosomal-recessive-nonsyndromic-deafness-104_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive nonsyndromic deafness 104}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-104}, 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 104 — https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-104 (retrieved 2026-05-03)

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