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Omenn syndrome

medical condition
Class type of: severe combined immunodeficiency Q2214419

Facts

10 properties
Instance of
rare disease, class of disease[3]
Subclass of
severe combined immunodeficiency
Age of onset
infantile onset, neonatal onset[19][20]
Genetic association
RAG1, RAG2, DCLRE1C, ADA, IL2RG, IL7R, LIG4, PSMB10, RMRP, CHD7[9][10][11][12][13][14][15][16][17][18]
Has phenotype
Skin rash, parakeratosis, seizure, Intractable diarrhea, bald head, immunoglobulin A deficiency, hypoalbuminemia, congenital onset, Infantile onset, Neonatal onset, Nezelof syndrome, erythema, pleocytosis, Bloodstream infection, Persistent fever, desquamation[22][23][24][25][26][27][28][29][30][31][32][33][34][35]
Health specialty
hematology[8]
NCI Thesaurus ID
C61240[7]
On focus list of Wikimedia project
WikiProject Medicine[21]
Prevalence
+0.000001[6]
Symptoms and signs
diarrhea, hepatosplenomegaly[4][5]
🏷️ Also known as
en Reticuloendotheliosis familial with eosinophilia en Severe Combined Immunodeficiency With Hypereosinophilia en severe combined immunodeficiency with hypereosinophilia en Reticuloendotheliosis, Familial, With Eosinophilia en combined immunodeficiency with hypereosinophilia en Omenn's syndrome en Omenn syndrome en OMENN SYNDROME en reticuloendotheliosis familial with eosinophilia ar متلازمة أومين cs těžká kombinovaná imunodeficience s hypereosinofilií cs Omennův syndrom cs familiární retikuloendotelióza s eosinofilií es Sindrome de Omenn es Síndrome de Omenn fr Déficit immunitaire combiné sévère avec hyperéosinophilie fr syndrome d'Omenn ja オーメン症候群 nl Omenn-syndroom pl Zespół Omenna
🔖 Identifiers · 19
Image (Wikimedia Commons)
Omenn syndrome.png ↗
Disease Ontology ID
DOID:0060010
DiseasesDB
32676
EMedicine ID
887687
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
Freebase ID
/m/071l_y
GARD rare disease ID
8198
Genetics Home Reference Conditions ID
omenn-syndrome
ICD-10-CM
D81.8
ICD-11 ID (Foundation)
1770823271
Microsoft Academic ID (discontinued)
2780174925
Mondo ID
MONDO_0011338
Show all 19 identifiers +7
OMIM ID
603554
Orphanet ID
39041
Raras disease ID
D39041
UMLS CUI
C2700553, C2931884, C1801959
UniProt disease ID
DI-02093
WikiProjectMed ID
Omenn syndrome
WikiSkripta article ID
4369

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Genetic association 3
RAG2, RAG1, DCLRE1C
← Genetic association 3
RAG2, RAG1, DCLRE1C
Symptoms and signs 2
diarrhea, hepatosplenomegaly
Health specialty 1
hematology
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
severe combined immunodeficiency
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Summary

Omenn syndrome is a rare disease[1]. It is a type of severe combined immunodeficiency[2].

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . Retrieved . wikidata.org.
  23. [24] ↑ . Retrieved . wikidata.org.
  24. [25] ↑ . Retrieved . wikidata.org.
  25. [26] ↑ . Retrieved . wikidata.org.
  26. [27] ↑ . Retrieved . wikidata.org.
  27. [28] ↑ . Retrieved . wikidata.org.
  28. [29] ↑ . Retrieved . wikidata.org.
  29. [30] ↑ . Retrieved . wikidata.org.
  30. [31] ↑ . Retrieved . wikidata.org.
  31. [32] ↑ . Retrieved . wikidata.org.
  32. [33] ↑ . Retrieved . wikidata.org.
  33. [34] ↑ . Retrieved . wikidata.org.
  34. [35] ↑ . Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

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). Omenn syndrome. Retrieved November 9, 2026, from https://4ort.xyz/entity/omenn-syndrome
MLA “Omenn syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 9 Nov. 2026, https://4ort.xyz/entity/omenn-syndrome.
BibTeX @misc{4ortxyz_omenn-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Omenn syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/omenn-syndrome}, note = {Accessed: 2026-11-09}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Omenn syndrome — https://4ort.xyz/entity/omenn-syndrome (retrieved 2026-11-09)

Canonical URL: https://4ort.xyz/entity/omenn-syndrome · Last refreshed:

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. 16d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Genetic association → RAG1, RAG2, DCLRE1C +1
    Wikidata description → medical condition
    Prevalence → 0.000001
    Age of onset → infantile onset, neonatal onset
    + 2 other properties edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · Comfyquiettree · 2026-07-04 view diff on Wikidata ↗
    Wikidata description → medical condition
    WikiSkripta article ID → 4369
    "Created claim: WikiSkripta article ID: 4369, Matched to Omennův syndrom (#78315268) in WikiSkripta #mix'n'"
  3. 24w ago · Eskivor · 2026-05-19 view diff on Wikidata ↗
    Subclass of → severe combined immunodeficiency
    Image → Omenn syndrome.png
    Instance of → rare disease, class of disease
    On focus list of Wikimedia project → WikiProject Medicine
    + 3 other properties edited (see Wikidata diff for full list)
    "Created claim: Image: Omenn syndrome.png"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.