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

Press Enter · cited answer in seconds

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 is a type of neutropenia^[4].
severe congenital neutropenia is a type of ELANE-related neutropenia^[5].
severe congenital neutropenia is a type of constitutional neutropenia^[6].
severe congenital neutropenia's genetic association is recorded as WAS^[7].
severe congenital neutropenia's genetic association is recorded as ELANE^[8].
severe congenital neutropenia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050590^[9].
severe congenital neutropenia's exact match is recorded as http://identifiers.org/doid/DOID:0050590^[10].
severe congenital neutropenia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_486^[11].
severe congenital neutropenia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_86788^[12].
severe congenital neutropenia's on focus list of Wikimedia project is recorded as WikiProject Medicine^[13].

⭐ Popularity Graph

0/100 long tail

Quick Facts

Instance of rare disease, class of disease

Subclass of neutropenia, ELANE-related neutropenia, constitutional neutropenia

Properties

Exact match purl.obolibrary.org, identifiers.org, www.orpha.net, www.orpha.net

Genetic association WAS, ELANE

On focus list of wikimedia project WikiProject Medicine

External References (10)

Disease ontology id DOID:0050590

Gard rare disease id 3981, 13592

Genetics home reference conditions id severe-congenital-neutropenia

Icd-10-cm D70

Mesh descriptor id C564539

Mondo id MONDO_0010294

Omim id 300299

Orphanet id 86788, 42738

Umls cui C1845987

Uniprot disease id DI-02457

References

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

Direct Wikidata claims

[2] ↑ severe congenital neutropenia — instance of (P31): rare disease. wikidata.org.
[3] ↑ severe congenital neutropenia — instance of (P31): class of disease. wikidata.org.
[4] ↑ severe congenital neutropenia — subclass of (P279): neutropenia. Disease Ontology. Retrieved 2019-05-15. wikidata.org.
[5] ↑ severe congenital neutropenia — subclass of (P279): ELANE-related neutropenia. wikidata.org.
[6] ↑ severe congenital neutropenia — subclass of (P279): constitutional neutropenia. wikidata.org.
[7] ↑ severe congenital neutropenia — genetic association (P2293): WAS. Q905695. Retrieved 2019-08-13. search.clinicalgenome.org. Provenance: wikidata.org.
[8] ↑ severe congenital neutropenia — genetic association (P2293): ELANE. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. wikidata.org.
[9] ↑ severe congenital neutropenia — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0050590. Disease Ontology. Retrieved 2019-08-28. wikidata.org.
[10] ↑ severe congenital neutropenia — exact match (P2888): http://identifiers.org/doid/DOID:0050590. Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
[11] ↑ severe congenital neutropenia — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_486. wikidata.org.
[12] ↑ severe congenital neutropenia — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_86788. wikidata.org.
[13] ↑ severe congenital neutropenia — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.

Class ancestry

[1] ↑ severe congenital neutropenia is an instance of rare disease (Q929833) [P31, primary]. 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)

Canonical URL: https://4ort.xyz/entity/severe-congenital-neutropenia · Last refreshed: May 3, 2026

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.

1d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Mondo id → MONDO_0010294

Imported from → —

Genetics home reference conditions id → severe-congenital-neutropenia

Umls cui → C1845987

+ 13 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.