Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Definition

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.

Also known as MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome, radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM, radioulnar synostosis with amegakaryocytic thrombocytopenia 2, radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2, radioulnar synostosis with amegakaryocytic thrombocytopenia type 2, RUSAT2 — per MONDO

Also identified as

• OMIM 616738 per MONDO
• UMLS C4225221 per MONDO