Term Name: | familial hemophagocytic lymphohistiocytosis 1 |
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Synonyms: | FHL1, HLH1, HPLH1 |
Definition: | A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. |
Ontology: | Human Disease [DOID:0110921] ( DOID:0110921 ) |