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| Term | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive | ID (Ontology) | DOID:0090013 (Human Disease) |
| Definition | A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. | ||
| Also Known As | "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" ; "SCID due to complete RAG1-2 deficiency" ; "Severe combined immunodeficiency due to complete RAG1-2 deficiency" | ||
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autosomal genetic disease |__autosomal recessive disease_______ combined immunodeficiency | |__severe combined immunodeficiency__| severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive |
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autosomal recessive disease severe combined immunodeficiency |
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External Crossreferences & Linkouts
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ICD10CM:D81.1 MESH:C563311 MIM:601457 ORDO:331206 |
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