# familial hemophagocytic lymphohistiocytosis 3

> hemophagocytic lymphohistiocytosis that has material basis in a mutation of UNC13D on chromosome 17q25.1

**Wikidata**: [Q32144786](https://www.wikidata.org/wiki/Q32144786)  
**Source**: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-3


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)