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early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

human disease
MedicalCondition rare_disease Q56002943
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early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

Summary

early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome is a rare disease[1].

Key Facts

  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's instance of is recorded as rare disease[2].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's instance of is recorded as class of disease[3].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's subclass of is recorded as congenital myopathy[4].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's subclass of is recorded as autosomal recessive disease[5].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's OMIM ID is recorded as 614399[6].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's KEGG ID is recorded as H02321[7].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's Disease Ontology ID is recorded as DOID:0111333[8].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's Orphanet ID is recorded as 439212[9].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's genetic association is recorded as MEGF10[10].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's Google Knowledge Graph ID is recorded as /g/11hg4hlt78[11].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_439212[12].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_98920[13].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111333[14].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111333[15].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's UMLS CUI is recorded as C3280679[16].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's UMLS CUI is recorded as C3541476[17].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's ICD-10-CM is recorded as G71.2[18].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's GARD rare disease ID is recorded as 12199[19].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's Mondo ID is recorded as MONDO_0013731[20].
  • early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome's UniProt disease ID is recorded as DI-03358[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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . wikidata.org.
  20. [21] ↑ . 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). early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome
MLA “early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome.
BibTeX @misc{4ortxyz_early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome — https://4ort.xyz/entity/early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome (retrieved 2026-05-03)

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