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familial hemophagocytic lymphohistiocytosis 5
Summary
- Synonym
-
- FHL5
- HLH5
- HPLH5
- Definition
- A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.
- Super Class
- hemophagocytic lymphohistiocytosis monogenic disease
External Links
- Disease Ontology
- DOID:0110925
- Mondo Disease Ontology
- OMIM
