familial hemophagocytic lymphohistiocytosis 5
hemophagocytic lymphohistiocytosis that has material basis in a mutation of STXBP2 on chromosome 19p13.2
familial hemophagocytic lymphohistiocytosis
Monarch Disease Ontology release 2018-06-29
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11