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Generative Language Models Including ChatGPT (1515) Ontologies, Classifications, and Coding (440) Artificial Intelligence (4758) Artificial Intelligence, Machine Learning, and Natural Language Processing for Public Health (158) AI Language Models in Health Care (743)

Published on in Vol 27 (2025)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/73233, first published .
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Enhancing the Accuracy of Human Phenotype Ontology Identification: Comparative Evaluation of Multimodal Large Language Models

Enhancing the Accuracy of Human Phenotype Ontology Identification: Comparative Evaluation of Multimodal Large Language Models

Authors of this article:

Wei Zhong1 Author Orcid Image ;   Mingyue Sun2 Author Orcid Image ;   Shun Yao3 Author Orcid Image ;   YiFan Liu1 Author Orcid Image ;   Dingchuan Peng4 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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Journals

  1. Ho M, Zitnik M, Azachi R, Basu S, Rajpurkar P, Sidlow R. Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy. Health and Technology 2026;16(3):621 View
  2. Zhong W, Yan H, Liu Y, Liu Y, Yang K, Gao H, Yao Z, Hao W, Yan Y, Yin C. Adaptive Fast-Slow Large Language Model Framework for Multidimensional Classification of Prenatal Ultrasound Reports: Comparative Study. Journal of Medical Internet Research 2026;28:e91399 View
  3. Yang J, Yang S, Shao Z, Chen T, Shen H, Zhou P, Xia B, Lei X, Wang L, Xue D, Zheng S, Yu Y, Zhang Z. Large language models in emergency and critical care medicine: a comprehensive review of applications, challenges, and future directions. Burns & Trauma 2026;14 View
  4. Paoli D, Lanza M, Banchelli F, Boarini M, Borghi S, Sangiorgi L, Mordenti M. Opportunities and challenges in automated coding of electronic health records: a pilot study for rare disease registries. Frontiers in Digital Health 2026;8 View

Conference Proceedings

  1. Gujjula D, Vairachilai S, Velagapudi S. 2026 2nd International Conference on Intelligent Systems and Computational Networks (ICISCN). Semantic Consistency Analysis of Large Language Models for Rare Disease Diagnosis Using Clinical Ontologies View