Familial hemophagocytic lymphohistiocytosis 5

Definition

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.

Also known as familial hemophagocytic lymphohistiocytosis type 5, FHL5, genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2, hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease, hemophagocytic lymphohistiocytosis, familial, type 5, STXBP2 genetic hemophagocytic lymphohistiocytosis — per MONDO

Also identified as

• DOID 0110925 per MONDO
• MESH C567752 per MONDO
• OMIM 613101 per MONDO
• UMLS C2751293 per MONDO