GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Radial Aplasia-thrombocytopenia Syndrome  
Disease Aliases (15)

Absent radii and thrombocytopenia

Chromosome 1q21.1 deletion syndrome, 200-kb

Radial aplasia-amegakaryocytic thrombocytopenia

Radial aplasia-thrombocytopenia syndrome

Tar

Tar - thrombocytopenia with absent radius syndrome

Tar syndrome

Thrombocytopenia absent radii

Thrombocytopenia absent radius syndrome

Thrombocytopenia with absent radii (tar) syndrome

Thrombocytopenia with absent radius syndrome

Thrombocytopenia-absent radius syndrome

Thrombocytopenia-absent radii syndrome

Chromosome 1q21.1 deletion syndrome

Thrombocytopenia-absent radius syndrome; tar

Associated Genes (1)
 

NCBI-RefSeq:  RBM8A   (RNA binding motif protein 8A)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Radial aplasia-thrombocytopenia syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations