Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Definition

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 — per MONDO

Also identified as

• OMIM 605432 per MONDO
• UMLS C4551975 per MONDO