A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.

Abstract excerpt

PURPOSE: Phenotype-based rapid diagnosis can make up for the time-consuming genetic sequencing diagnosis of rare diseases. However, the collected phenotypes of patients can sometimes be inaccurate or incomplete, which limits the accuracy of diagnostic results. To solve this problem, we try to design a phenotype-based differential diagnosis process for rare diseases to achieve rapid and accurate diagnosis of rare...

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