| umls-concept:C0398550 | skos:definition | NCI: An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy.,NCI: A very rare disorder in which the bone marrow doesn't make enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They also have an increased risk of leukemia and sarcoma, especially osteosarcoma (bone cancer). Patients with congenital pure red cell aplasia may have a mutation (change) in one of the genes that make proteins found in the cell's ribosomes. | lld:umls |
