Immunodeficiency 32B
Disease ID: disease_node_13336
Connections displayed (default: 10).
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| Dbxref | MIM:226990, UMLS_CUI:C4016741 |
|---|---|
| Subclassof | DOID_0111966, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD32B, autosomal recessive IRF8 deficiency, immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive |
| Doid Label | immunodeficiency 32B |
| Doid Description | A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13336 |
| Doid Id | DOID_0111985 |
| Label | Immunodeficiency 32B |
- Outgoing r'ship
SUBCLASS_OFto/from Monocyte, Dendritic Cell, And Nk Cell Deficiency(ID:disease_node_13335) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)