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.
Xenbase Genes : itk
|MONDO:0013081 - lymphoproliferative syndrome 1|
|OMIM:613011 - LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1|
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)