| Disease ID | Source | Name | Description |
| 185000 | OMIM | Overhydrated hereditary stomatocytosis (OHST) | An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. The disease is caused by variants affecting the gene represented in this entry. |
| 268150 | OMIM | Regulator type Rh-null hemolytic anemia (RHN) | Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. The disease is caused by variants affecting the gene represented in this entry. |