autosomal recessive nonsyndromic deafness 49

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has material basis in mutation in the MARVELD2 gene on chromosome 5q13

MedicalCondition head_and_neck_disease Q28024633

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autosomal recessive nonsyndromic deafness 49

Summary

autosomal recessive nonsyndromic deafness 49 is a head and neck disease^[1].

Key Facts

autosomal recessive nonsyndromic deafness 49's instance of is recorded as head and neck disease^[2].
autosomal recessive nonsyndromic deafness 49's instance of is recorded as rare disease^[3].
autosomal recessive nonsyndromic deafness 49's instance of is recorded as class of disease^[4].
autosomal recessive nonsyndromic deafness 49's subclass of is recorded as autosomal recessive nonsyndromic deafness^[5].
autosomal recessive nonsyndromic deafness 49's MeSH descriptor ID is recorded as C565717^[6].
autosomal recessive nonsyndromic deafness 49's OMIM ID is recorded as 610153^[7].
autosomal recessive nonsyndromic deafness 49's Disease Ontology ID is recorded as DOID:0110506^[8].
autosomal recessive nonsyndromic deafness 49's NCI Thesaurus ID is recorded as C129024^[9].
autosomal recessive nonsyndromic deafness 49's genetic association is recorded as MARVELD2^[10].
autosomal recessive nonsyndromic deafness 49's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110506^[11].
autosomal recessive nonsyndromic deafness 49's exact match is recorded as http://identifiers.org/doid/DOID:0110506^[12].
autosomal recessive nonsyndromic deafness 49's UMLS CUI is recorded as C1857811^[13].
autosomal recessive nonsyndromic deafness 49's ICD-10-CM is recorded as H90.3^[14].
autosomal recessive nonsyndromic deafness 49's on focus list of Wikimedia project is recorded as WikiProject Medicine^[15].
autosomal recessive nonsyndromic deafness 49's Mondo ID is recorded as MONDO_0012420^[16].
autosomal recessive nonsyndromic deafness 49's UniProt disease ID is recorded as DI-00875^[17].

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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 MARVELD2

Imported from wholeness_audit_2026-05-02

Nci thesaurus id C129024

On focus list of wikimedia project WikiProject Medicine

External References (7)

Disease ontology id DOID:0110506

Icd-10-cm H90.3

Mesh descriptor id C565717

Mondo id MONDO_0012420

Omim id 610153

Umls cui C1857811

Uniprot disease id DI-00875

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive nonsyndromic deafness 49 — 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 49 — instance of (P31): rare disease. wikidata.org.
[4] ↑ autosomal recessive nonsyndromic deafness 49 — instance of (P31): class of disease. wikidata.org.
[5] ↑ autosomal recessive nonsyndromic deafness 49 — subclass of (P279): autosomal recessive nonsyndromic deafness. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[6] ↑ autosomal recessive nonsyndromic deafness 49 — MeSH descriptor ID (P486): C565717. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal recessive nonsyndromic deafness 49 — OMIM ID (P492): 610153. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[8] ↑ autosomal recessive nonsyndromic deafness 49 — Disease Ontology ID (P699): DOID:0110506. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[9] ↑ autosomal recessive nonsyndromic deafness 49 — NCI Thesaurus ID (P1748): C129024. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[10] ↑ autosomal recessive nonsyndromic deafness 49 — genetic association (P2293): MARVELD2. Q905695. Retrieved 2019-08-13. wikidata.org.
[11] ↑ autosomal recessive nonsyndromic deafness 49 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0110506. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[12] ↑ autosomal recessive nonsyndromic deafness 49 — exact match (P2888): http://identifiers.org/doid/DOID:0110506. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[13] ↑ autosomal recessive nonsyndromic deafness 49 — UMLS CUI (P2892): C1857811. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[14] ↑ autosomal recessive nonsyndromic deafness 49 — ICD-10-CM (P4229): H90.3. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[15] ↑ autosomal recessive nonsyndromic deafness 49 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[16] ↑ autosomal recessive nonsyndromic deafness 49 — Mondo ID (P5270): MONDO_0012420. wikidata.org.
[17] ↑ autosomal recessive nonsyndromic deafness 49 — UniProt disease ID (P11430): DI-00875. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive nonsyndromic deafness 49 is an instance of head and neck disease (Q55789477) [P31, primary]. Wikidata. wikidata.org.

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APA

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MLA

“autosomal recessive nonsyndromic deafness 49.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-49.

BibTeX

@misc{4ortxyz_autosomal-recessive-nonsyndromic-deafness-49_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive nonsyndromic deafness 49}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-49}, 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 49 — https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-49 (retrieved 2026-05-03)

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