I don't have the original reference, it was an invited talk at UChicago, but something like https://www.sciencedirect.com/science/article/abs/pii/S09574... for example.

But regarding diagnosis, there are symptom checkers where you feed stuff in. I get the impression that multiple companies are in the process of building such tools based on crawling research papers to diagnose even very rare conditions. IIRC IBM Watson had such functionality.