autosomal recessive distal spinal muscular atrophy 2

human disease

MedicalCondition rare_disease Q16944450

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autosomal recessive distal spinal muscular atrophy 2

Summary

autosomal recessive distal spinal muscular atrophy 2 is a rare disease^[1].

Key Facts

autosomal recessive distal spinal muscular atrophy 2's instance of is recorded as rare disease^[2].
autosomal recessive distal spinal muscular atrophy 2's instance of is recorded as class of disease^[3].
autosomal recessive distal spinal muscular atrophy 2 is a type of Distal hereditary motor neuropathies^[4].
autosomal recessive distal spinal muscular atrophy 2 is a type of spinal muscular atrophy^[5].
autosomal recessive distal spinal muscular atrophy 2 is a type of nervous system heredodegenerative disease^[6].
autosomal recessive distal spinal muscular atrophy 2 is a type of autosomal recessive distal hereditary motor neuropathy^[7].
autosomal recessive distal spinal muscular atrophy 2 is a type of autosomal recessive disease^[8].
autosomal recessive distal spinal muscular atrophy 2 is a type of autosomal recessive distal hereditary motor neuronopathy^[9].
autosomal recessive distal spinal muscular atrophy 2's health specialty is recorded as neurology^[10].
autosomal recessive distal spinal muscular atrophy 2's genetic association is recorded as SIGMAR1^[11].
autosomal recessive distal spinal muscular atrophy 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111065^[12].
autosomal recessive distal spinal muscular atrophy 2's exact match is recorded as http://identifiers.org/doid/DOID:0111065^[13].
autosomal recessive distal spinal muscular atrophy 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_139552^[14].
autosomal recessive distal spinal muscular atrophy 2's on focus list of Wikimedia project is recorded as WikiProject Medicine^[15].

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Quick Facts

Instance of rare disease, class of disease

Subclass of Distal hereditary motor neuropathies, nervous system heredodegenerative disease, autosomal recessive distal hereditary motor neuropathy, autosomal recessive distal hereditary motor neuronopathy

Properties

Exact match purl.obolibrary.org, identifiers.org, www.orpha.net

Genetic association SIGMAR1

Health specialty neurology

On focus list of wikimedia project WikiProject Medicine

External References (10)

Babelnet id 14771580n

Disease ontology id DOID:0111065

Gard rare disease id 10133

Icd-10-cm G12.2

Mesh descriptor id C535715

Mondo id MONDO_0011585

Omim id 605726

Orphanet id 139552

Umls cui C1854023

Uniprot disease id DI-04545

🌐 Available in 2 languages

enDistal spinal muscular atrophy type 2 esNeuropatía motora hereditaria distal tipo Jerash

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive distal spinal muscular atrophy 2 — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal recessive distal spinal muscular atrophy 2 — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal recessive distal spinal muscular atrophy 2 — subclass of (P279): Distal hereditary motor neuropathies. wikidata.org.
[5] ↑ autosomal recessive distal spinal muscular atrophy 2 — subclass of (P279): spinal muscular atrophy. Disease Ontology. Retrieved 2019-05-15. wikidata.org.
[6] ↑ autosomal recessive distal spinal muscular atrophy 2 — subclass of (P279): nervous system heredodegenerative disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[7] ↑ autosomal recessive distal spinal muscular atrophy 2 — subclass of (P279): autosomal recessive distal hereditary motor neuropathy. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ autosomal recessive distal spinal muscular atrophy 2 — subclass of (P279): autosomal recessive disease. Disease Ontology. Retrieved 2019-05-15. wikidata.org.
[9] ↑ autosomal recessive distal spinal muscular atrophy 2 — subclass of (P279): autosomal recessive distal hereditary motor neuronopathy. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[10] ↑ autosomal recessive distal spinal muscular atrophy 2 — health specialty (P1995): neurology. wikidata.org.
[11] ↑ autosomal recessive distal spinal muscular atrophy 2 — genetic association (P2293): SIGMAR1. Q905695. Retrieved 2019-08-13. wikidata.org.
[12] ↑ autosomal recessive distal spinal muscular atrophy 2 — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111065. Disease Ontology. Retrieved 2020-11-29. wikidata.org.
[13] ↑ autosomal recessive distal spinal muscular atrophy 2 — exact match (P2888): http://identifiers.org/doid/DOID:0111065. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
[14] ↑ autosomal recessive distal spinal muscular atrophy 2 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_139552. wikidata.org.
[15] ↑ autosomal recessive distal spinal muscular atrophy 2 — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive distal spinal muscular atrophy 2 is an instance of rare disease (Q929833) [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). autosomal recessive distal spinal muscular atrophy 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-distal-spinal-muscular-atrophy-2

MLA

“autosomal recessive distal spinal muscular atrophy 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-distal-spinal-muscular-atrophy-2.

BibTeX

@misc{4ortxyz_autosomal-recessive-distal-spinal-muscular-atrophy-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive distal spinal muscular atrophy 2}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-distal-spinal-muscular-atrophy-2}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive distal spinal muscular atrophy 2 — https://4ort.xyz/entity/autosomal-recessive-distal-spinal-muscular-atrophy-2 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-distal-spinal-muscular-atrophy-2 · 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.

4d ago · JhealdBatch bot · 2026-07-04 view diff on Wikidata ↗

On focus list of wikimedia project → WikiProject Medicine

Gard rare disease id → 10133

Health specialty → neurology

Imported from → —

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

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39915|batch #39915]]: rm redundant disease superclass"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.