| Metadata | |
|---|---|
| ID | DOID:0060759 |
| Name | immunodeficiency with hyper IgM type 5 |
| 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 |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C1720958 exactMatch GARD:10581 exactMatch MIM:608106 exactMatch ORDO:101092 broadMatch ORDO:183666 |
| Subsets |
DO_rare_slim |
| Synonyms |
HIGM5 [EXACT] hyper-IgM syndrome 5 [EXACT] hyper-IgM syndrome due to UNG deficiency [EXACT] hyper-IgM syndrome due to uracil N-glycosylase [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a hyper IgM syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |