Familial Hemophagocytic Lymphohistiocytosis Type 5

**Semantic type:** Disease or Syndrome

**Definition:** Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the STXBP2 gene.

**Synonyms:** - FHL5 - STXBP2-FHLH - STXBP2-Related Familial Hemophagocytic Lymphohistiocytosis - STXBP2-fHLH