severe congenital neutropenia

neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections
MedicalCondition rare_disease Q18553325
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severe congenital neutropenia

Summary

severe congenital neutropenia is a rare disease[1].

Key Facts

  • severe congenital neutropenia's instance of is recorded as rare disease[2].
  • severe congenital neutropenia's instance of is recorded as class of disease[3].
  • severe congenital neutropenia's subclass of is recorded as neutropenia[4].
  • severe congenital neutropenia's subclass of is recorded as ELANE-related neutropenia[5].
  • severe congenital neutropenia's subclass of is recorded as constitutional neutropenia[6].
  • severe congenital neutropenia's MeSH descriptor ID is recorded as C564539[7].
  • severe congenital neutropenia's OMIM ID is recorded as 300299[8].
  • severe congenital neutropenia's Disease Ontology ID is recorded as DOID:0050590[9].
  • severe congenital neutropenia's Orphanet ID is recorded as 86788[10].
  • severe congenital neutropenia's Orphanet ID is recorded as 42738[11].
  • severe congenital neutropenia's genetic association is recorded as WAS[12].
  • severe congenital neutropenia's genetic association is recorded as ELANE[13].
  • severe congenital neutropenia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050590[14].
  • severe congenital neutropenia's exact match is recorded as http://identifiers.org/doid/DOID:0050590[15].
  • severe congenital neutropenia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_486[16].
  • severe congenital neutropenia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_86788[17].
  • severe congenital neutropenia's UMLS CUI is recorded as C1845987[18].
  • severe congenital neutropenia's ICD-10-CM is recorded as D70[19].
  • severe congenital neutropenia's GARD rare disease ID is recorded as 3981[20].
  • severe congenital neutropenia's GARD rare disease ID is recorded as 13592[21].
  • severe congenital neutropenia's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
  • severe congenital neutropenia's Mondo ID is recorded as MONDO_0010294[23].
  • severe congenital neutropenia's Genetics Home Reference Conditions ID is recorded as severe-congenital-neutropenia[24].
  • severe congenital neutropenia's UniProt disease ID is recorded as DI-02457[25].

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] . wikidata.org.
  5. [6] . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. 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] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Q905695. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  12. [13] . Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. wikidata.org.
  13. [14] . Disease Ontology. Retrieved . wikidata.org.
  14. [15] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] . Disease Ontology. Retrieved . wikidata.org.
  19. [20] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] . Disease Ontology. Retrieved . wikidata.org.
  21. [22] . wikidata.org.
  22. [23] . wikidata.org.
  23. [24] . wikidata.org.
  24. [25] . 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). severe congenital neutropenia. Retrieved May 3, 2026, from https://4ort.xyz/entity/severe-congenital-neutropenia
MLA “severe congenital neutropenia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/severe-congenital-neutropenia.
BibTeX @misc{4ortxyz_severe-congenital-neutropenia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{severe congenital neutropenia}}, year = {2026}, url = {https://4ort.xyz/entity/severe-congenital-neutropenia}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): severe congenital neutropenia — https://4ort.xyz/entity/severe-congenital-neutropenia (retrieved 2026-05-03)

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