An explainable dataset linking facial phenotypes and genes to rare genetic diseases

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 records have disease labels. Each data record represents a patient group and includes demographic information, variation information, and phenotype information.

Full papers are available at: An explainable dataset linking facial phenotypes and genes to rare genetic diseases | Scientific Data

Please Cite:

Song, J., He, M., Ren, S. et al. An explainable dataset linking facial phenotypes and genes to rare genetic diseases. Sci Data 12, 634 (2025). https://doi.org/10.1038/s41597-025-04922-z