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familial hemophagocytic lymphohistiocytosis 1
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease hemophagocytic lymphohistiocytosis
External Links
- Disease Ontology
- DOID:0110921
- Mondo Disease Ontology
- OMIM
