| Metadata | |
|---|---|
| ID | DOID:0112062 |
| Name | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/25512081/ |
| Xrefs | |
| Synonyms |
IMD73C [EXACT] |
| Parent Relationships |