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| Term | immunodeficiency 30 | ID (Ontology) | DOID:0111990 (Human Disease) |
| 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. | ||
| Also Known As | "IMD30" ; "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" ; "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__________ primary immunodeficiency disease | |__T cell and NK cell immunodeficiency__| immunodeficiency 30 |
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| Is a |
autosomal recessive disease T cell and NK cell immunodeficiency |
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External Crossreferences & Linkouts
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MIM:614891 NCI:C176800 ORDO:319552 UMLS_CUI:C4013949 |
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