Additional file 6 of Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis
FGDD, an explainable dataset collected from 509 research articles. It contains 1,147 data records encompassing 197 disease-causing genes, 437 facial phenotypes, and 211 disease entities, with 689 reco
There are over 7,000 unique rare diseases, some of which affecting 3,500 or fewer patients in the US. Due to clinicians' limited experience with such diseases and the considerable heterogeneity of the
