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| Term | immunodeficiency with hyper IgM type 5 | ID (Ontology) | DOID:0060759 (Human Disease) |
| Definition | A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. | ||
| Also Known As | "HIGM5" ; "hyper-IgM syndrome 5" ; "hyper-IgM syndrome due to UNG 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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autosomal genetic disease |__autosomal recessive disease__ hyperimmunoglobulin syndrome | |__hyper IgM syndrome___________| immunodeficiency with hyper IgM type 5 |
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| Is a |
autosomal recessive disease hyper IgM syndrome |
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GARD:10581 MIM:608106 ORDO:101092 UMLS_CUI:C1720958 |
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