Association in Facial Phenotype, Gene, Disease: A Dataset for Explainable Rare Genetic Diseases Diagnosis

Many rare genetic diseases exhibit recognizable facial phenotypes, which are often used as diagnostic clues. However, current facial phenotype diagnostic models, which are trained on image datasets, have high accuracy but often suffer from an inability to explain their predictions, which reduces physicians' confidence in the model output.In this paper, we constructed a dataset, called FGDD, which was collected from 509 publications and contains 1147 data records, in which each data record represents a patient group and contains patient information, variation information, and facial phenotype information. To verify the availability of the dataset, we evaluated the performance of commonly used classification algorithms on the dataset and analyzed the explainability from global and local perspectives. FGDD aims to support the training of disease diagnostic models, provide explainable results, and increase physicians' confidence with solid evidence. It also allows us to explore the complex relationship between genes, diseases, and facial phenotypes, to gain a deeper understanding of the pathogenesis and clinical manifestations of rare genetic diseases.