X-linked lymphoproliferative syndrome 1

Summary

DOID:0060705 - X-linked lymphoproliferative syndrome 1

Disease Ontology Definition:A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.

Synonyms: XLP1

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

: xiap, sh2d1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010627 - X-linked lymphoproliferative syndrome

MONDO:0010627 - X-linked lymphoproliferative syndrome

MIM:

MIM:308240 - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1

MIM:308240 - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): lymphoproliferative syndrome (is_a), X-linked recessive disease (is_a)