Immunodeficiency 62
Disease ID: disease_node_17346
Connections displayed (default: 10).
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| Dbxref | MIM:618459, UMLS_CUI:C5193109 |
|---|---|
| Subclassof | DOID_0050737, DOID_2115 |
| Data Source | DOID |
| Synonyms | IMD62 |
| Doid Label | immunodeficiency 62 |
| Doid Description | A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17346 |
| Doid Id | DOID_0111991 |
| Label | Immunodeficiency 62 |
- Outgoing r'ship
SUBCLASS_OFto/from B Cell Deficiency(ID:disease_node_17331) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)