Immunodeficiency With Hyper-Igm Type 2
Disease ID: disease_node_17343
Connections displayed (default: 10).
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| Dbxref | GARD:10578, MIM:605258, NCI:C129074, ORDO:101089, UMLS_CUI:C1720956 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080544 |
| Data Source | DOID |
| Synonyms | AID deficiency, HIGM2, activation-induced cytidine deaminase deficiency, hyper-IgM syndrome type 2 |
| Doid Label | immunodeficiency with hyper-IgM type 2 |
| Doid Description | A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17343 |
| Doid Id | DOID_0060758 |
| Label | Immunodeficiency With Hyper-Igm Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hyper-Igm Immunodeficiency Syndrome(ID:disease_node_11677) (Disease)