Immunodeficiency With Hyper Igm Type 5
Disease ID: disease_node_17342
Connections displayed (default: 10).
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| Dbxref | GARD:10581, MIM:608106, ORDO:101092, UMLS_CUI:C1720958 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080544 |
| Data Source | DOID |
| Synonyms | HIGM5, hyper-IgM syndrome 5, hyper-IgM syndrome due to UNG deficiency, hyper-IgM syndrome due to uracil N-glycosylase |
| Doid Label | immunodeficiency with hyper IgM type 5 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17342 |
| Doid Id | DOID_0060759 |
| Label | Immunodeficiency With Hyper Igm Type 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Hyper-Igm Immunodeficiency Syndrome(ID:disease_node_11677) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)