peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55784310

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peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Summary

peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a developmental defect during embryogenesis^[1].

Key Facts

peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome's instance of is recorded as head and neck disease^[3].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome's instance of is recorded as rare disease^[4].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome's instance of is recorded as class of disease^[5].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a type of syndromic genetic deafness^[6].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a type of autosomal dominant distal myopathy^[7].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a type of autosomal dominant distal hereditary motor neuropathy^[8].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome's genetic association is recorded as MYH14^[9].
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_397744^[10].

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Quick Facts

Instance of rare disease, class of disease

Subclass of syndromic genetic deafness, autosomal dominant distal myopathy, autosomal dominant distal hereditary motor neuropathy, developmental defect during embryogenesis, head and neck disease

Properties

Exact match www.orpha.net

Genetic association MYH14

External References (6)

Icd-10-cm G60.0

Mondo id MONDO_0013711

Omim id 614369

Orphanet id 397744

Umls cui C3280556, C5190594

Uniprot disease id DI-03320

References

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

Direct Wikidata claims

[2] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — instance of (P31): head and neck disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[4] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — instance of (P31): rare disease. wikidata.org.
[5] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — instance of (P31): class of disease. wikidata.org.
[6] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — subclass of (P279): syndromic genetic deafness. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — subclass of (P279): autosomal dominant distal myopathy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — subclass of (P279): autosomal dominant distal hereditary motor neuropathy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — genetic association (P2293): MYH14. Q905695. Retrieved 2019-08-13. wikidata.org.
[10] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_397744. wikidata.org.

Class ancestry

[1] ↑ peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is an instance of developmental defect during embryogenesis (Q55788864) [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). peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome

MLA

“peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome.

BibTeX

@misc{4ortxyz_peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome — https://4ort.xyz/entity/peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome · 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.

9d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0013711

Genetic association → MYH14

Orphanet id → 397744

Instance of → developmental defect during embryogenesis, head and neck disease, rare disease +1

+ 8 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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