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Summary Literature (0)
DOID:0111990 - immunodeficiency 30

Disease Ontology Definition:A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.

Synonyms: IMD30, MSMD due to complete IL12RB1 deficiency, MSMD due to complete interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,

Xenbase Genes :



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): T cell and NK cell immunodeficiency (is_a), autosomal recessive disease (is_a)