| Namespace | disease_ontology | Obsolete | false |
| description | A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. |
