autosomal recessive severe congenital neutropenia due to CSF3R deficiency

human disease

MedicalCondition rare_disease Q55785069

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autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Summary

autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare disease^[1].

Key Facts

autosomal recessive severe congenital neutropenia due to CSF3R deficiency's instance of is recorded as rare disease^[2].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's instance of is recorded as class of disease^[3].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's subclass of is recorded as severe congenital neutropenia^[4].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's OMIM ID is recorded as 617014^[5].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's Orphanet ID is recorded as 420702^[6].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's genetic association is recorded as CSF3R^[7].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_420702^[8].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's UMLS CUI is recorded as C4310764^[9].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's ICD-10-CM is recorded as D70^[10].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's Mondo ID is recorded as MONDO_0014865^[11].
autosomal recessive severe congenital neutropenia due to CSF3R deficiency's UniProt disease ID is recorded as DI-04754^[12].

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Quick Facts

Instance of rare disease, class of disease

Subclass of severe congenital neutropenia

Properties

Exact match www.orpha.net

Genetic association CSF3R

Imported from wholeness_audit_2026-05-02

External References (6)

Icd-10-cm D70

Mondo id MONDO_0014865

Omim id 617014

Orphanet id 420702

Umls cui C4310764

Uniprot disease id DI-04754

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — instance of (P31): rare disease. wikidata.org.
[3] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — subclass of (P279): severe congenital neutropenia. wikidata.org.
[5] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — OMIM ID (P492): 617014. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — Orphanet ID (P1550): 420702. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — genetic association (P2293): CSF3R. Inherited biallelic CSF3R mutations in severe congenital neutropenia.. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[8] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_420702. wikidata.org.
[9] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — UMLS CUI (P2892): C4310764. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[10] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — ICD-10-CM (P4229): D70. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[11] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — Mondo ID (P5270): MONDO_0014865. wikidata.org.
[12] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency — UniProt disease ID (P11430): DI-04754. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive severe congenital neutropenia due to CSF3R deficiency is an instance of rare disease (Q929833) [P31, primary]. 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). autosomal recessive severe congenital neutropenia due to CSF3R deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency

MLA

“autosomal recessive severe congenital neutropenia due to CSF3R deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency.

BibTeX

@misc{4ortxyz_autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive severe congenital neutropenia due to CSF3R deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive severe congenital neutropenia due to CSF3R deficiency — https://4ort.xyz/entity/autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency (retrieved 2026-05-03)

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