radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.
MONDO:0011555
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
is_a
MONDO:0100458
MECOM-associated syndrome
is_a
MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
exact
RUSAT2
exact
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM
exact
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
exact
radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2
exact
radioulnar synostosis with amegakaryocytic thrombocytopenia type 2
exact