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| Term | immunodeficiency 33 | ID (Ontology) | DOID:0112003 (Human Disease) |
| Definition | A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. | ||
| Also Known As | "IMD33" ; "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" ; "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" (for all, see Synonyms field below) | ||
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X-linked monogenic disease |__X-linked recessive disease____ primary immunodeficiency disease | |__combined immunodeficiency_____| immunodeficiency 33 |
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| Is a |
X-linked recessive disease combined immunodeficiency |
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External Crossreferences & Linkouts
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| MIM:300636 | |||