Distal hereditary motor neuropathies

Human disease

Class type of: motor neuron disease, genetic motor neuron disease Q5282840

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Summary

Distal hereditary motor neuropathies is a class of disease^[1].

Key Facts

Subclass of: motor neuron disease^[2], genetic motor neuron disease^[3]
Genetic association: BSCL2^[4], ATP7A^[5], BAG3^[6], COQ7^[7], DCTN1^[8], GARS1^[9], DNAJB2^[10], HSPB1^[11], HSPB3^[12], IGHMBP2^[13], SIGMAR1^[14], RTN2^[15], SORD^[16], SPTAN1^[17]
P14914: D53739^[18]

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Quick Facts

Instance of class of disease

Subclass of motor neuron disease, genetic motor neuron disease

Properties

Genetic association BSCL2, ATP7A, BAG3, COQ7, DCTN1, GARS1, DNAJB2, HSPB1, HSPB3, IGHMBP2, SIGMAR1, RTN2, SORD, SPTAN1, TBCE, VRK1, WARS1, SLC5A7, TRPV4, EMILIN1, REEP1, FBXO38, PLEKHG5, HSPB8, VWA1

P14914 D53739

Identifiers (9)

Exact match www.orpha.net

Freebase id /m/0h_cbjr

Gard rare disease id 12683

Kegg id H00856

Microsoft academic id (discontinued) 2781170307

Mondo id MONDO_0018894

Orphanet id 3739, 53739

Umls cui C0393541

Wikiprojectmed id Distal hereditary motor neuronopathies

🏷️ Also known as

en dHMN en Distal hereditary motor neuropathies en distal hereditary motor neuropathy en Distal spinal muscular atrophy en dSMA en neuronopathy, distal hereditary motor fr neuropathie motrice distale héréditaire

References

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

Direct Wikidata claims

[2] ↑ Distal hereditary motor neuropathies — subclass of (P279): motor neuron disease. wikidata.org.
[3] ↑ Distal hereditary motor neuropathies — subclass of (P279): genetic motor neuron disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[4] ↑ Distal hereditary motor neuropathies — genetic association (P2293): BSCL2. ClinGen. Retrieved 2022-05-19. search.clinicalgenome.org. Provenance: wikidata.org.
[5] ↑ Distal hereditary motor neuropathies — genetic association (P2293): ATP7A. Retrieved 2026-10-23. wikidata.org.
[6] ↑ Distal hereditary motor neuropathies — genetic association (P2293): BAG3. Retrieved 2026-10-23. wikidata.org.
[7] ↑ Distal hereditary motor neuropathies — genetic association (P2293): COQ7. Retrieved 2026-10-23. wikidata.org.
[8] ↑ Distal hereditary motor neuropathies — genetic association (P2293): DCTN1. Retrieved 2026-10-23. wikidata.org.
[9] ↑ Distal hereditary motor neuropathies — genetic association (P2293): GARS1. Retrieved 2026-10-23. wikidata.org.
[10] ↑ Distal hereditary motor neuropathies — genetic association (P2293): DNAJB2. Retrieved 2026-10-23. wikidata.org.
[11] ↑ Distal hereditary motor neuropathies — genetic association (P2293): HSPB1. Retrieved 2026-10-23. wikidata.org.
[12] ↑ Distal hereditary motor neuropathies — genetic association (P2293): HSPB3. Retrieved 2026-10-23. wikidata.org.
[13] ↑ Distal hereditary motor neuropathies — genetic association (P2293): IGHMBP2. Retrieved 2026-10-23. wikidata.org.
[14] ↑ Distal hereditary motor neuropathies — genetic association (P2293): SIGMAR1. Retrieved 2026-10-23. wikidata.org.
[15] ↑ Distal hereditary motor neuropathies — genetic association (P2293): RTN2. Retrieved 2026-10-23. wikidata.org.
[16] ↑ Distal hereditary motor neuropathies — genetic association (P2293): SORD. Retrieved 2026-10-23. wikidata.org.
[17] ↑ Distal hereditary motor neuropathies — genetic association (P2293): SPTAN1. Retrieved 2026-10-23. wikidata.org.
[18] ↑ Distal hereditary motor neuropathies — P14914 (P14914): D53739. wikidata.org.

Class ancestry

[1] ↑ Distal hereditary motor neuropathies is an instance of class of disease (Q112193867) [P31, primary]. Wikidata. wikidata.org.

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APA

4ort.xyz Knowledge Graph. (2026). Distal hereditary motor neuropathies. Retrieved October 28, 2026, from https://4ort.xyz/entity/distal-hereditary-motor-neuropathies

MLA

“Distal hereditary motor neuropathies.” 4ort.xyz Knowledge Graph, 4ort.xyz, 28 Oct. 2026, https://4ort.xyz/entity/distal-hereditary-motor-neuropathies.

BibTeX

@misc{4ortxyz_distal-hereditary-motor-neuropathies_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Distal hereditary motor neuropathies}}, year = {2026}, url = {https://4ort.xyz/entity/distal-hereditary-motor-neuropathies}, note = {Accessed: 2026-10-28}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Distal hereditary motor neuropathies — https://4ort.xyz/entity/distal-hereditary-motor-neuropathies (retrieved 2026-10-28)

Canonical URL: https://4ort.xyz/entity/distal-hereditary-motor-neuropathies · Last refreshed: October 28, 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.

8d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗

Mondo id → MONDO_0018894

Sitelink count → 1

Instance of → class of disease

Umls cui → C0393541

+ 14 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"

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