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Summary Literature (0)
DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1

Disease Ontology Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.

Synonyms: FHL1, HLH1, HPLH1,

Xenbase Genes : stxbp2, stx11, unc13d, prf1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009974 - familial hemophagocytic lymphohistiocytosis type 1


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

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