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| Term | immunodeficiency 21 | ID (Ontology) | DOID:0111947 (Human Disease) |
| Definition | A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. | ||
| Also Known As | "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" ; "DCML" ; "dendritic cell, monocyte, B and NK lymphoid deficiency" (for all, see Synonyms field below) | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
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 dominant disease________ immune system disease | |__primary immunodeficiency disease__| immunodeficiency 21 2 rec. |
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| Is a |
autosomal dominant disease primary immunodeficiency disease |
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External Crossreferences & Linkouts
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GARD:10934 MESH:D000077428 MIM:614172 NCI:C126349 ORDO:228423 |
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