RareDxR1 enables autonomous rare‑disease diagnosis without curated phenotypes
RareDxR1 is a reasoning‑centric LLM that extracts phenotypes directly from raw clinical notes and performs autonomous diagnostic reasoning, bypassing the need for human‑annotated phenotype databases. Its Reflection‑Enhanced Reasoning Sampling and dual‑level curriculum RL push accuracy past prior benchmarks, opening open‑domain rare‑disease diagnosis to broader clinical use.