Diamond-Blackfan anemia 4

Definition

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.

Also known as Diamond-Blackfan anaemia caused by mutation in RPS17, Diamond-Blackfan Anaemia type 4, Diamond-Blackfan anemia 4, Diamond-Blackfan anemia caused by mutation in RPS17, Diamond-Blackfan Anemia type 4, RPS17 Diamond-Blackfan anaemia, RPS17 Diamond-Blackfan anemia — per MONDO

Also identified as

• DOID 0111890 per MONDO
• MESH C567281 per MONDO
• NCIT C176913 per MONDO
• OMIM 612527 per MONDO
• UMLS C2675860 per MONDO

Affected Organs