| Metadata | |
|---|---|
| ID | DOID:0110925 |
| Name | familial hemophagocytic lymphohistiocytosis 5 |
| Definition | A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. https://www.ncbi.nlm.nih.gov/pubmed/19804848 |
| Xrefs | |
| Synonyms |
FHL5 [EXACT] HLH5 [EXACT] HPLH5 [EXACT] |
| Parent Relationships |
is_a monogenic disease |