# familial hemophagocytic lymphohistiocytosis 5

> hemophagocytic lymphohistiocytosis that has material basis in a mutation of STXBP2 on chromosome 19p13.2

**Wikidata**: [Q32144802](https://www.wikidata.org/wiki/Q32144802)  
**Source**: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)