Diamond-Blackfan anemia

Definition

A congenital aregenerative and often macrocytic anemia with erythroblastopenia.

Also known as Aase syndrome, Aase-Smith II syndrome, Blackfan-Diamond anaemia, Blackfan-Diamond anemia, chronic constitutional pure red cell anemia, congenital hypoplastic anaemia, congenital hypoplastic anemia, congenital hypoplastic anemia, Blackfan-Diamond type, congenital PRCA, congenital pure red cell aplasia, DBA, Diamond Blackfan Anemia, Diamond-Blackfan anemia, erythrogenesis imperfecta, inherited erythroblastopenia — per MONDO

Also identified as

• DOID 1339 per MONDO
• MESH D029503 per MONDO
• NCIT C61236 per MONDO
• Orphanet 124 per MONDO
• SCTID 88854002 per MONDO
• UMLS C1260899 per MONDO

Affected Organs