| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| Description | A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (Human Disease Ontology, DOID_0050120) |
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4 genes involed in the disease hemophagocytic lymphohistiocytosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.