Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Disease ID: disease_node_13333
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| Dbxref | MIM:618987 |
|---|---|
| Subclassof | DOID_0111962, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD73C |
| Doid Label | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
| Doid Description | A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13333 |
| Doid Id | DOID_0112062 |
| Label | Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
- Outgoing r'ship
SUBCLASS_OFto/from Combined Immunodeficiency(ID:disease_node_13314) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)