# familial hemophagocytic lymphohistiocytosis 2

> hemophagocytic lymphohistiocytosis that has material basis in an autosomal recessive mutation of PRF1 on chromosome 10q22.1

**Wikidata**: [Q32151944](https://www.wikidata.org/wiki/Q32151944)  
**Source**: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)