Disease ID | Source | Name | Description |
616649 | OMIM | Spherocytosis 2 (SPH2) | An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. The disease is caused by variants affecting the gene represented in this entry. |
617948 | OMIM | Elliptocytosis 3 (EL3) | A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |