| Disease ID | Source | Name | Description |
| 133100 | OMIM | Erythrocytosis, familial, 1 (ECYT1) | An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. The disease is caused by variants affecting the gene represented in this entry. |