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Summary Literature (0)
DOID:0110925 - familial hemophagocytic lymphohistiocytosis 5

Disease Ontology Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.

Synonyms: FHL5, HLH5, HPLH5

Xenbase Genes : stxbp2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013135 - familial hemophagocytic lymphohistiocytosis 5


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hemophagocytic lymphohistiocytosis (is_a), monogenic disease (is_a)