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DOID:0060705 - X-linked lymphoproliferative syndrome 1
Disease Ontology Definition:A lymphoproliferative syndrome characterized by X-linked inheritance, severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in mutation in the SH2D1A gene on chromosome Xq25.
Synonyms: XLP1,
Echinobase Genes :
MIM:308240 - lymphoproliferative syndrome, x-linked, 1; xlp1 |
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)