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DOID:0111949 - immunodeficiency 36
Disease Ontology Definition:A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1.
Synonyms: IMD36, activated phosphoinositide 3-kinase delta syndrome 2,
Xenbase Genes : pik3r1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee