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autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

human disease
MedicalCondition rare_disease Q55345873
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autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Summary

autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures is a rare disease[1].

Key Facts

  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's instance of is recorded as rare disease[2].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's instance of is recorded as class of disease[3].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's subclass of is recorded as nervous system heredodegenerative disease[4].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's subclass of is recorded as autosomal dominant childhood-onset proximal spinal muscular atrophy[5].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's OMIM ID is recorded as 615290[6].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's Orphanet ID is recorded as 363454[7].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's NCI Thesaurus ID is recorded as C191766[8].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's genetic association is recorded as BICD2[9].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_363447[10].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_363454[11].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's UMLS CUI is recorded as C3809049[12].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's UMLS CUI is recorded as C4747715[13].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's ICD-10-CM is recorded as G12.1[14].
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures's Mondo ID is recorded as MONDO_0014121[15].

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] ↑ . 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] ↑ . wikidata.org.
  8. [9] ↑ . Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . UMLS 2023. Retrieved . wikidata.org.
  13. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] ↑ . 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). autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy-with-contractures
MLA “autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy-with-contractures.
BibTeX @misc{4ortxyz_autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy-with-contractures_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy-with-contractures}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures — https://4ort.xyz/entity/autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy-with-contractures (retrieved 2026-05-03)

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