Disease ID | Source | Name | Description |
222800 | OMIM | Erythrocytosis, familial, 8 (ECYT8) | An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. The disease is caused by variants affecting the gene represented in this entry. |