Disease ID | Source | Name | Description |
616022 | OMIM | Neutropenia, severe congenital 6, autosomal recessive (SCN6) | A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disease is caused by variants affecting the gene represented in this entry. |