C203462Level 8
Familial Hemophagocytic Lymphohistiocytosis Type 2
**Semantic type:** Disease or Syndrome
**Definition:** Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the PRF1 gene.
**Synonyms:** - FHL2 - PRF1-FHLH - PRF1-Related Familial Hemophagocytic Lymphohistiocytosis - PRF1-fHLH
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