has material basis in germline mutation in RBM8A syndrome caused by partial chromosomal deletion syndromic disease congenital hematological disorder thrombocytopenia-absent radius syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/thrombocytopenia_absent_radius_syndrome Thrombocytopenia Absent Radius Syndrome TAR syndrome NCIT:C99038 OMIM:274000 MONDO:0010121 TAR radial aplasia-thrombocytopenia syndrome DECIPHER:64 absent radii and thrombocytopenia Orphanet:3320 ICD9:759.89 NANDO:2200661 GARD:0005116 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome MEDGEN:61235 DOID:14699 thrombocytopenia-absent radius syndrome UMLS:C0175703 thrombocytopenia absent radii MESH:C536940 MedDRA:10071719 Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. SCTID:85589009 thrombocytopenia absent radius syndrome NORD:1768 dysostosis syndromic constitutional thrombocytopenia congenital limb malformation non-syndromic limb reduction defect