radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Rare Disease

MONDO:0024558

Also Known As

HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeradio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11radioulnar synostosis with amegakaryocytic thrombocytopenia 1RUSAT1Rusatthrombocytopenia, congenital, with radioulnar synostosis

Definition

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

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Associated Genes

HOXA11 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:605432 ↗

GARD

GARD:18068 ↗

Related Diseases

radioulnar synostosis with amegakaryocytic thrombocytopenia 2

MONDO:0014758

Rare

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