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Summary Literature (0)
DOID:0060707 - lymphoproliferative syndrome 1

Disease Ontology Definition:A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.

Synonyms: LPFS1

Xenbase Genes : itk

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013081 - lymphoproliferative syndrome 1


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lymphoproliferative syndrome (is_a)