NCIt synonyms : DKCA5; Dyskeratosis Congenita, Autosomal Dominant, 5; Exudative Retinopathy with Bone Marrow Failure;
NCIt definition : An autosomal dominant form of dyskeratosis congenita, caused by mutation(s) in the
TINF2 gene, encoding TERF1-interacting nuclear factor 2. It is a fatal disease associated
with exudative retinopathy and bone marrow failure.;