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Disease Ontology Browser
immunodeficiency 30 (DOID:0111990)
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Synonyms: IMD30; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency
Alt IDs: OMIM:614891, NCI:C176800, ORDO:319552, UMLS_CUI:C4013949
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 IL12RB1 on chromosome 19p13.11.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory