# severe congenital neutropenia

> neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections

**Wikidata**: [Q18553325](https://www.wikidata.org/wiki/Q18553325)  
**Source**: https://4ort.xyz/entity/severe-congenital-neutropenia


## References

1. Disease Ontology
2. Severe congenital neutropenias
3. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia
4. Monarch Disease Ontology release 2018-06-29
5. UniProt
6. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49c66050-ab36-4359-8d78-b7ba5bef80d2-2021-11-18T171012.085Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000015285/MONDO_0010294)
9. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
10. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)