Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

MONDO:0024558

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.

Also known as: HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome, radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11, radioulnar synostosis with amegakaryocytic thrombocytopenia 1, RUSAT1, Rusat, thrombocytopenia, congenital, with radioulnar synostosis

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