autosomal dominant congenital benign spinal muscular atrophy

MedicalCondition class_of_disease Q55345753

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autosomal dominant congenital benign spinal muscular atrophy

Summary

autosomal dominant congenital benign spinal muscular atrophy is a class of disease^[1].

Key Facts

autosomal dominant congenital benign spinal muscular atrophy's instance of is recorded as class of disease^[2].
autosomal dominant congenital benign spinal muscular atrophy's subclass of is recorded as nervous system heredodegenerative disease^[3].
autosomal dominant congenital benign spinal muscular atrophy's MeSH descriptor ID is recorded as C563981^[4].
autosomal dominant congenital benign spinal muscular atrophy's OMIM ID is recorded as 600175^[5].
autosomal dominant congenital benign spinal muscular atrophy's Orphanet ID is recorded as 1216^[6].
autosomal dominant congenital benign spinal muscular atrophy's genetic association is recorded as TRPV4^[7].
autosomal dominant congenital benign spinal muscular atrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1216^[8].
autosomal dominant congenital benign spinal muscular atrophy's UMLS CUI is recorded as C1838492^[9].
autosomal dominant congenital benign spinal muscular atrophy's ICD-10-CM is recorded as G12.2^[10].
autosomal dominant congenital benign spinal muscular atrophy's Mondo ID is recorded as MONDO_0010839^[11].
autosomal dominant congenital benign spinal muscular atrophy's UniProt disease ID is recorded as DI-02688^[12].

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Quick Facts

Instance of class of disease

Subclass of nervous system heredodegenerative disease

Properties

Exact match www.orpha.net

Genetic association TRPV4

Imported from wholeness_audit_2026-05-02

External References (7)

Icd-10-cm G12.2

Mesh descriptor id C563981

Mondo id MONDO_0010839

Omim id 600175

Orphanet id 1216

Umls cui C1838492

Uniprot disease id DI-02688

References

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

Direct Wikidata claims

[2] ↑ autosomal dominant congenital benign spinal muscular atrophy — instance of (P31): class of disease. wikidata.org.
[3] ↑ autosomal dominant congenital benign spinal muscular atrophy — subclass of (P279): nervous system heredodegenerative disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[4] ↑ autosomal dominant congenital benign spinal muscular atrophy — MeSH descriptor ID (P486): C563981. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[5] ↑ autosomal dominant congenital benign spinal muscular atrophy — OMIM ID (P492): 600175. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[6] ↑ autosomal dominant congenital benign spinal muscular atrophy — Orphanet ID (P1550): 1216. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[7] ↑ autosomal dominant congenital benign spinal muscular atrophy — genetic association (P2293): TRPV4. Open Targets Platform. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[8] ↑ autosomal dominant congenital benign spinal muscular atrophy — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_1216. wikidata.org.
[9] ↑ autosomal dominant congenital benign spinal muscular atrophy — UMLS CUI (P2892): C1838492. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[10] ↑ autosomal dominant congenital benign spinal muscular atrophy — ICD-10-CM (P4229): G12.2. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[11] ↑ autosomal dominant congenital benign spinal muscular atrophy — Mondo ID (P5270): MONDO_0010839. wikidata.org.
[12] ↑ autosomal dominant congenital benign spinal muscular atrophy — UniProt disease ID (P11430): DI-02688. wikidata.org.

Class ancestry

[1] ↑ autosomal dominant congenital benign spinal muscular atrophy is an instance of class of disease (Q112193867) [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 dominant congenital benign spinal muscular atrophy. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-congenital-benign-spinal-muscular-atrophy

MLA

“autosomal dominant congenital benign spinal muscular atrophy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-congenital-benign-spinal-muscular-atrophy.

BibTeX

@misc{4ortxyz_autosomal-dominant-congenital-benign-spinal-muscular-atrophy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant congenital benign spinal muscular atrophy}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-congenital-benign-spinal-muscular-atrophy}, note = {Accessed: 2026-05-03}}

LLM prompt

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

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