| Disease ID | Source | Name | Description |
| 615285 | OMIM | Neutropenia, severe congenital 5, autosomal recessive (SCN5) | An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis. The disease is caused by variants affecting the gene represented in this entry. |