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Thrombocytopenia-absent radius syndrome
rareThrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
- Identifiers
- MONDO:0010121 OMIM:274000Orphanet:3320
- Causal genes
- RBM8A
- Part of
- Congenital hematological disorderCongenital limb malformationDysostosisNon-syndromic limb reduction defectSyndromic constitutional thrombocytopeniaSyndromic disease
- Also known as
- 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome · absent radii and thrombocytopenia · radial aplasia-thrombocytopenia syndrome · TAR · TAR syndrome
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