Term Name: | familial hemophagocytic lymphohistiocytosis 5 |
---|---|
Synonyms: | FHL5, HLH5, HPLH5 |
Definition: | A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. |
Ontology: | Human Disease [DOID:0110925] ( DOID:0110925 ) |