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familial hemophagocytic lymphohistiocytosis 2
Summary
- Synonym
-
- FHL2
- HLH2
- HPLH2
- Definition
- A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.
- Super Class
- autosomal recessive disease hemophagocytic lymphohistiocytosis
External Links
- Disease Ontology
- DOID:0110922
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
