tubular aggregate myopathy

Human disease
MedicalCondition rare_disease Q21505517
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tubular aggregate myopathy

Summary

tubular aggregate myopathy is a rare disease[1].

Key Facts

  • tubular aggregate myopathy's instance of is recorded as rare disease[2].
  • tubular aggregate myopathy's instance of is recorded as class of disease[3].
  • tubular aggregate myopathy's subclass of is recorded as muscular disease[4].
  • tubular aggregate myopathy's subclass of is recorded as autosomal dominant disease[5].
  • tubular aggregate myopathy's OMIM ID is recorded as 615883[6].
  • tubular aggregate myopathy's OMIM ID is recorded as 160565[7].
  • tubular aggregate myopathy's KEGG ID is recorded as H02258[8].
  • tubular aggregate myopathy's Disease Ontology ID is recorded as DOID:0080089[9].
  • tubular aggregate myopathy's Orphanet ID is recorded as 2593[10].
  • tubular aggregate myopathy's genetic association is recorded as ORAI1[11].
  • tubular aggregate myopathy's genetic association is recorded as STIM1[12].
  • tubular aggregate myopathy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080089[13].
  • tubular aggregate myopathy's exact match is recorded as http://identifiers.org/doid/DOID:0080089[14].
  • tubular aggregate myopathy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2593[15].
  • tubular aggregate myopathy's ICD-10-CM is recorded as G71.2[16].
  • tubular aggregate myopathy's GARD rare disease ID is recorded as 3884[17].
  • tubular aggregate myopathy's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
  • tubular aggregate myopathy's Mondo ID is recorded as MONDO_0008051[19].

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. 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] ↑ . Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  11. [12] ↑ . Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  14. [15] ↑ . 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.

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). tubular aggregate myopathy. Retrieved May 3, 2026, from https://4ort.xyz/entity/tubular-aggregate-myopathy
MLA “tubular aggregate myopathy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/tubular-aggregate-myopathy.
BibTeX @misc{4ortxyz_tubular-aggregate-myopathy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{tubular aggregate myopathy}}, year = {2026}, url = {https://4ort.xyz/entity/tubular-aggregate-myopathy}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): tubular aggregate myopathy — https://4ort.xyz/entity/tubular-aggregate-myopathy (retrieved 2026-05-03)

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