familial hemophagocytic lymphohistiocytosis 2

Summary

DOID:0110922 - familial hemophagocytic lymphohistiocytosis 2

Disease Ontology Definition:A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.

Synonyms: FHL2, HLH2, HPLH2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: prf1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011337 - familial hemophagocytic lymphohistiocytosis 2

MONDO:0011337 - familial hemophagocytic lymphohistiocytosis 2

Other Model Organisms: Alliance, 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)