/radioulnar synostosis with amegakaryocytic thrombocytopenia 2
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Rare Disease
MONDO:0014758
Also Known As
MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeRUSAT2radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOMradioulnar synostosis with amegakaryocytic thrombocytopenia 2radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2radioulnar synostosis with amegakaryocytic thrombocytopenia type 2
Definition
Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.
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