X-linked lymphoproliferative syndrome 2

Summary

DOID:0060706 - X-linked lymphoproliferative syndrome 2

Disease Ontology Definition:A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.

Synonyms: XIAP deficiency, XLP2

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010385 - X-linked lymphoproliferative disease due to XIAP deficiency

MONDO:0010385 - X-linked lymphoproliferative disease due to XIAP deficiency

MIM:

MIM:300635 - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

MIM:300635 - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

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)