lymphoproliferative syndrome 1

Summary

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 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

: itk

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013081 - lymphoproliferative syndrome 1

MONDO:0013081 - lymphoproliferative syndrome 1

MIM:

MIM:613011 - LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

MIM:613011 - LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

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

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

Parent(s): autosomal recessive disease (is_a), lymphoproliferative syndrome (is_a)