Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Definition

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.

Also known as Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive, Diamond-Blackfan anaemia caused by mutation in TSR2, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive, Diamond-Blackfan anemia caused by mutation in TSR2, TSR2 Diamond-Blackfan anaemia, TSR2 Diamond-Blackfan anemia — per MONDO

Also identified as

• DOID 0111897 per MONDO
• OMIM 300946 per MONDO
• UMLS C4225422 per MONDO