Disease association ontology term - MONDO:0016828 - autosomal recessive sideroblastic anemia
Term summary
- ID
- MONDO:0016828
- Name
- autosomal recessive sideroblastic anemia
- Ontology or CV name
- Disease association
- Definition
- Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.