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| Term | severe combined immunodeficiency with sensitivity to ionizing radiation | ID (Ontology) | DOID:0090012 (Human Disease) |
| Definition | A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. | ||
| Also Known As | "artemis deficiency" ; "SCID due to artemis deficiency" ; "SCID due to DCLRE1C 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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No relevant statements available
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autosomal genetic disease |__autosomal recessive disease_______ combined immunodeficiency | |__severe combined immunodeficiency__| severe combined immunodeficiency with sensitivity to ionizing radiation |
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| Is a |
autosomal recessive disease severe combined immunodeficiency |
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External Crossreferences & Linkouts
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ICD10CM:D81.1 MESH:C537589 MIM:602450 ORDO:275 |
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