X-linked distal spinal muscular atrophy type 3

human disease
MedicalCondition rare_disease Q55345735
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X-linked distal spinal muscular atrophy type 3

Summary

X-linked distal spinal muscular atrophy type 3 is a rare disease[1].

Key Facts

  • X-linked distal spinal muscular atrophy type 3's instance of is recorded as rare disease[2].
  • X-linked distal spinal muscular atrophy type 3's instance of is recorded as class of disease[3].
  • X-linked distal spinal muscular atrophy type 3's subclass of is recorded as nervous system heredodegenerative disease[4].
  • X-linked distal spinal muscular atrophy type 3's subclass of is recorded as X-linked distal hereditary motor neuropathy[5].
  • X-linked distal spinal muscular atrophy type 3's MeSH descriptor ID is recorded as C564506[6].
  • X-linked distal spinal muscular atrophy type 3's OMIM ID is recorded as 300489[7].
  • X-linked distal spinal muscular atrophy type 3's Disease Ontology ID is recorded as DOID:0111196[8].
  • X-linked distal spinal muscular atrophy type 3's Orphanet ID is recorded as 139557[9].
  • X-linked distal spinal muscular atrophy type 3's genetic association is recorded as ATP7A[10].
  • X-linked distal spinal muscular atrophy type 3's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_139557[11].
  • X-linked distal spinal muscular atrophy type 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111196[12].
  • X-linked distal spinal muscular atrophy type 3's exact match is recorded as http://identifiers.org/doid/DOID:0111196[13].
  • X-linked distal spinal muscular atrophy type 3's UMLS CUI is recorded as C1845359[14].
  • X-linked distal spinal muscular atrophy type 3's ICD-10-CM is recorded as G12.2[15].
  • X-linked distal spinal muscular atrophy type 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
  • X-linked distal spinal muscular atrophy type 3's Mondo ID is recorded as MONDO_0010338[17].
  • X-linked distal spinal muscular atrophy type 3's UniProt disease ID is recorded as DI-02799[18].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . Disease Ontology. Retrieved . wikidata.org.
  12. [13] . Disease Ontology. Retrieved . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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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). X-linked distal spinal muscular atrophy type 3. Retrieved May 3, 2026, from https://4ort.xyz/entity/x-linked-distal-spinal-muscular-atrophy-type-3
MLA “X-linked distal spinal muscular atrophy type 3.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/x-linked-distal-spinal-muscular-atrophy-type-3.
BibTeX @misc{4ortxyz_x-linked-distal-spinal-muscular-atrophy-type-3_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{X-linked distal spinal muscular atrophy type 3}}, year = {2026}, url = {https://4ort.xyz/entity/x-linked-distal-spinal-muscular-atrophy-type-3}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): X-linked distal spinal muscular atrophy type 3 — https://4ort.xyz/entity/x-linked-distal-spinal-muscular-atrophy-type-3 (retrieved 2026-05-03)

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