FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial hemophagocytic lymphohistiocytosis 5 ID (Ontology) DOID:0110925 (Human Disease)
Definition A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.
Also Known As "FHL5" ; "HLH5" ; "HPLH5"
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DO.org
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 Genes
 familial hemophagocytic lymphohistiocytosis 5       1
 for disease ribbon | familial hemophagocytic lymphohistiocytosis 5       1
 model of | familial hemophagocytic lymphohistiocytosis 5       1
Spanning Tree (Parents/Children)
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genetic disease
 |__monogenic disease___________________
lymphatic system disease                |
 |__hemophagocytic lymphohistiocytosis__|
                                        familial hemophagocytic lymphohistiocytosis 5  1 rec.
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Is a hemophagocytic lymphohistiocytosis
monogenic disease
Part of
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Synonyms
  • "FHL5" EXACT OMO:0003012
    "HLH5" EXACT OMO:0003012
    "HPLH5" EXACT OMO:0003012
Secondary IDs
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MIM:613101