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Metadata
ID DOID:0110925
Name familial hemophagocytic lymphohistiocytosis 5
Definition A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.
https://www.ncbi.nlm.nih.gov/pubmed/19804848
Xrefs

OMIM:613101

Synonyms

FHL5 [EXACT]

HLH5 [EXACT]

HPLH5 [EXACT]

Parent Relationships

is_a monogenic disease

is_a hemophagocytic lymphohistiocytosis

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