# WHIM syndrome

> immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22

**Wikidata**: [Q1258463](https://www.wikidata.org/wiki/Q1258463)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/WHIM_syndrome)  
**Source**: https://4ort.xyz/entity/whim-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000121966/Orphanet_51636)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)