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

Journal: Journal of medical Internet research
Published Date: Jun 2, 2025

Abstract

BACKGROUND: Identifying Human Phenotype Ontology (HPO) terms is crucial for diagnosing and managing rare diseases. However, clinicians, especially junior physicians, often face challenges due to the complexity of describing patient phenotypes accurately. Traditional manual search methods using HPO databases are time-consuming and prone to errors.

Authors

  • Wei Zhong
    School of Data and Computer Science, Sun Yat-sen University, Guangzhou, 510006, People's Republic of China.
  • Mingyue Sun
    Department of Reproductive Medicine, Shijiazhuang People's Hospital, Hebei Province, Shijiazhuang, China.
  • Shun Yao
    Navy Clinical Medical School, Anhui Medical University, No. 81, Meishan Road, Hefei, 230032, Anhui, China.
  • Yifan Liu
    College of Orthopedics and Traumatology, Henan University of Chinese Medicine, Zhengzhou, China.
  • Dingchuan Peng
    School of Medicine, South China University of Technology, Guangdong Province, Guangzhou, China.
  • Yan Liu
    Department of Clinical Microbiology, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, 200072, People's Republic of China.
  • Kai Yang
    Department of Radiology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Huimin Gao
    Peking University Sixth Hospital, Beijing, China.
  • Huihui Yan
    Collaborative Innovation Center of Yangtze River Delta Region Green Pharmaceuticals, Zhejiang University of Technology, Hangzhou, 310014, P. R. China.
  • WenJing Hao
    Department of Prenatal Diagnosis, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, 251 Yaojiayuan Road, Chaoyang District, Beijing, 100020, China, 86 15572779093.
  • Yousheng Yan
    Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing 100026, P. R. China.
  • Chenghong Yin
    Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing 100026, P. R. China.

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