Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Definition

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.

Also known as Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, Diamond Blackfan anemia 15 with mandibulofacial dysostosis, Diamond-Blackfan anaemia caused by mutation in RPS28, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Diamond-Blackfan anemia caused by mutation in RPS28, RPS28 Diamond-Blackfan anaemia, RPS28 Diamond-Blackfan anemia — per MONDO

Also identified as

• DOID 0111894 per MONDO
• OMIM 606164 per MONDO
• UMLS C4225411 per MONDO