Emberger syndrome

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders
MedicalCondition head_and_neck_disease Q55610804
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Summary

Emberger syndrome is a head and neck disease[1].

Key Facts

  • Emberger syndrome's instance of is recorded as head and neck disease[2].
  • Emberger syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Emberger syndrome's instance of is recorded as rare disease[4].
  • Emberger syndrome's instance of is recorded as class of disease[5].
  • Emberger syndrome is a type of GATA2 deficiency[6].
  • Emberger syndrome is a type of genetic hematologic disease[7].
  • Emberger syndrome is a type of syndromic lymphedema[8].
  • Emberger syndrome is a type of rare genetic immune disease[9].
  • Emberger syndrome is a type of tumor of hematopoietic and lymphoid tissues[10].
  • Emberger syndrome is a type of syndromic genetic deafness[11].
  • Emberger syndrome is a type of rare genetic vascular tumor[12].
  • Emberger syndrome is a type of primary lymphedema with associated anomalies[13].
  • Emberger syndrome is a type of rare nervous system tumor[14].
  • Emberger syndrome is a type of head and neck cancer[15].
  • Emberger syndrome's ICD-9-CM is recorded as 757.0[16].
  • Emberger syndrome's genetic association is recorded as GATA2[17].
  • Emberger syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3226[18].

References

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

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . Monarch Disease Ontology release 2018-06-29. 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: 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). Emberger syndrome. Retrieved October 14, 2026, from https://4ort.xyz/entity/emberger-syndrome
MLA “Emberger syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 14 Oct. 2026, https://4ort.xyz/entity/emberger-syndrome.
BibTeX @misc{4ortxyz_emberger-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Emberger syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/emberger-syndrome}, note = {Accessed: 2026-10-14}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 14w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0013540
    Genetic association → GATA2
    Gard rare disease id → 13030
    Orphanet id → 3226
    + 13 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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