| Disease ID | Source | Name | Description |
| 301000 | OMIM | Wiskott-Aldrich syndrome (WAS) | An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. The disease is caused by variants affecting the gene represented in this entry. |
| 313900 | OMIM | Thrombocytopenia 1 (THC1) | A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. The disease is caused by variants affecting the gene represented in this entry. |
| 300299 | OMIM | Neutropenia, severe congenital, X-linked (XLN) | 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. |