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Metadata
ID	DOID:0060707
Name	lymphoproliferative syndrome 1
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. https://www.ncbi.nlm.nih.gov/pubmed/19425169, https://www.ncbi.nlm.nih.gov/pubmed/21109689
Xrefs	ICD10CM:D47.9 OMIM:613011
Subsets	DO_rare_slim
Synonyms	LPFS1 [EXACT]
Parent Relationships	is_a lymphoproliferative syndrome is_a autosomal recessive disease