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| Term | immunodeficiency 48 | ID (Ontology) | DOID:0111943 (Human Disease) |
| Definition | A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. | ||
| Also Known As | "combined immunodeficiency due to ZAP70 deficiency" ; "IMD48" ; "zeta-associated-protein 70 deficiency" | ||
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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 recessive disease___ primary immunodeficiency disease | |__T cell deficiency_____________| immunodeficiency 48 1 rec. |
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| Is a |
autosomal recessive disease T cell deficiency |
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External Crossreferences & Linkouts
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GARD:387 MESH:C537590 MIM:269840 ORDO:911 UMLS_CUI:C1849236 |
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