Also known as exudative retinopathy with bone marrow failure, DKCA5, Dyskeratosis Congenita, Autosomal Dominant 5, Retinopathy-anemia-central nervous system anomalies syndrome, REVESZ SYNDROME, Revesz-DeBuse syndrome
via PubMed
dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).