|OBO ID: DOID:0060759|
|Term Name:||immunodeficiency with hyper IgM type 5||Search Ontology:|
|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. https://www.ncbi.nlm.nih.gov/pubmed/12958596|
|Ontology:||Human Disease (DOID:0060759)|
|is a type of:||
OTHER immunodeficiency with hyper IgM type 5 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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