arxivcs.AI2026-06-30
RareDxR1: Autonomous Medical Reasoning for Rare Disease Diagnosis Beyond Human Annotation
Deyang Jiang, Haoran Wu, Ziyi Wang, Yiming Rong, Yunlong Zhao, Ye Jin, et al.
Rare disease differential diagnosis is a critical yet arduous clinical task, requiring physicians to identify precise phenotypes from complex, unstructured patient symptoms and execute intricate reasoning within a vast search space. However, existing AI approaches typically rely…