scapuloperoneal spinal muscular atrophy

human disease
MedicalCondition rare_disease Q55950307
Press Enter · cited answer in seconds

scapuloperoneal spinal muscular atrophy

Summary

scapuloperoneal spinal muscular atrophy is a rare disease[1].

Key Facts

  • scapuloperoneal spinal muscular atrophy's instance of is recorded as rare disease[2].
  • scapuloperoneal spinal muscular atrophy's instance of is recorded as class of disease[3].
  • scapuloperoneal spinal muscular atrophy's subclass of is recorded as spinal muscular atrophy[4].
  • scapuloperoneal spinal muscular atrophy's subclass of is recorded as motor neuron disease[5].
  • scapuloperoneal spinal muscular atrophy's subclass of is recorded as autosomal dominant disease[6].
  • scapuloperoneal spinal muscular atrophy's OMIM ID is recorded as 181405[7].
  • scapuloperoneal spinal muscular atrophy's KEGG ID is recorded as H00524[8].
  • scapuloperoneal spinal muscular atrophy's Disease Ontology ID is recorded as DOID:0111552[9].
  • scapuloperoneal spinal muscular atrophy's Orphanet ID is recorded as 431255[10].
  • scapuloperoneal spinal muscular atrophy's ICD-9-CM is recorded as 335.19[11].
  • scapuloperoneal spinal muscular atrophy's genetic association is recorded as TRPV4[12].
  • scapuloperoneal spinal muscular atrophy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_431255[13].
  • scapuloperoneal spinal muscular atrophy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111552[14].
  • scapuloperoneal spinal muscular atrophy's exact match is recorded as http://identifiers.org/doid/DOID:0111552[15].
  • scapuloperoneal spinal muscular atrophy's UMLS CUI is recorded as C0751335[16].
  • scapuloperoneal spinal muscular atrophy's ICD-10-CM is recorded as G12.1[17].
  • scapuloperoneal spinal muscular atrophy's GARD rare disease ID is recorded as 10314[18].
  • scapuloperoneal spinal muscular atrophy's Mondo ID is recorded as MONDO_0008408[19].
  • scapuloperoneal spinal muscular atrophy's UniProt disease ID is recorded as DI-02689[20].
  • scapuloperoneal spinal muscular atrophy's Experimental Factor Ontology ID is recorded as 1001992[21].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . wikidata.org.
  4. [5] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . wikidata.org.
  8. [9] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] . Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Disease Ontology. Retrieved . wikidata.org.
  14. [15] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [16] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . wikidata.org.
  19. [20] . wikidata.org.
  20. [21] . wikidata.org.

Class ancestry

  1. [1] . 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). scapuloperoneal spinal muscular atrophy. Retrieved May 3, 2026, from https://4ort.xyz/entity/scapuloperoneal-spinal-muscular-atrophy
MLA “scapuloperoneal spinal muscular atrophy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/scapuloperoneal-spinal-muscular-atrophy.
BibTeX @misc{4ortxyz_scapuloperoneal-spinal-muscular-atrophy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{scapuloperoneal spinal muscular atrophy}}, year = {2026}, url = {https://4ort.xyz/entity/scapuloperoneal-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): scapuloperoneal spinal muscular atrophy — https://4ort.xyz/entity/scapuloperoneal-spinal-muscular-atrophy (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/scapuloperoneal-spinal-muscular-atrophy · Last refreshed: