Disease-gene associations mined from literature

Human genes for thrombocytopenia-absent radius syndrome

Thrombocytopenia-absent radius syndrome [DOID:14699]

TAR Syndrome (Thrombocytopenia with Absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm, and a dramatically reduced platelet count. This syndrome may occur as a part of the 1q21.1 deletion syndrome

Synonyms:  thrombocytopenia-absent radius syndrome,  DOID:14699,  thrombocytopeniaabsent radius syndrome,  thrombocytopenia-absent radius disease,  thrombocytopenia-absent radius disorder ...

Linkouts:  OMIM #1 #2