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Artificial Intelligence (2432) Clinical Information and Decision Making (2125) Knowledge Translation and Implementation Science (598) Decision Support for Health Professionals (1674) Ontologies, Classifications, and Coding (354) Computer-Aided Diagnosis (283) mHealth for Diagnosis (89) Generative Language Models Including ChatGPT (868)

Published on in Vol 27 (2025)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/69929, first published .
Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China’s Rare Disease Catalog: Comparative Study

Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China’s Rare Disease Catalog: Comparative Study

Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China’s Rare Disease Catalog: Comparative Study

Authors of this article:

Wei Zhong1 Author Orcid Image ;   YiFan Liu1 Author Orcid Image ;   Yan Liu1 Author Orcid Image ;   Kai Yang1 Author Orcid Image ;   HuiMin Gao1 Author Orcid Image ;   HuiHui Yan1 Author Orcid Image ;   WenJing Hao1 Author Orcid Image ;   YouSheng Yan1 Author Orcid Image ;   ChengHong Yin1 Author Orcid Image
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  5. Kim S, Zhou Y, Guo Y, Xiao C, Zheng K. Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic review. Journal of the American Medical Informatics Association 2026 View
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  7. Zhong W, Fu Y, Peng D, Liu Y, Liu Y, Yang K, Gao H, Yan H, Hao W, Yan Y, Yin C. Open-Source Large Language Models Distilled DeepSeek-R1 Pose Challenges for On-Premises Clinical Deployment in Medical Diagnosis: A Comparative Study of Performance. Journal of Medical Systems 2026;50(1) View