Myopathy, lactic acidosis, and sideroblastic anemia 1

Definition

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.

Also known as myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1, myopathy, lactic acidosis, and sideroblastic anemia 1, myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1, PUS1 myopathy, lactic acidosis, and sideroblastic anaemia, PUS1 myopathy, lactic acidosis, and sideroblastic anemia — per MONDO

Also identified as

• DOID 0111185 per MONDO
• OMIM 600462 per MONDO
• UMLS C4551958 per MONDO