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调整孤儿网分类,以在罕见疾病集群中识别疾病特征

Sungrim Moon1, Jessica Maine1, Ewy Mathe1

  • 1Division of Preclinical Innovation, National Center for Advancing Translational Sciences National Institutes of Health Rockville, Maryland, USA.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine
|September 12, 2025
PubMed
概括

通过使用Orphanet分类来调查罕见疾病病因,发现了重要的联系. 罕见的发育缺陷和代谢的先天性错误显示了未来罕见疾病研究和药物发现的前景.

关键词:
孤儿网的分类 孤儿网的分类疾病集群疾病集群罕见疾病是一种罕见的疾病.罕见疾病的特征 罕见疾病的特征

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