| Disease ID | Source | Name | Description |
| 615707 | OMIM | Immunodeficiency 20 (IMD20) | A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). The disease is caused by variants affecting the gene represented in this entry. |