An explainable dataset linking facial phenotypes and genes to rare genetic diseases
收藏DataCite Commons2025-06-01 更新2025-05-07 收录
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https://figshare.com/articles/dataset/FGDD/28516604/3
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资源简介：
FGDD, an explainable dataset collected from 509 research articles. It contains 1,147 data records encompassing 197 disease-causing genes, 437 facial phenotypes, and 211 disease entities, with 689 records have disease labels. Each data record represents a patient group and includes demographic information, variation information, and phenotype information.<b>Full papers are available at</b>: An explainable dataset linking facial phenotypes and genes to rare genetic diseases | Scientific Data<b>Please Cite: </b>Song, J., He, M., Ren, S. <i>et al.</i> An explainable dataset linking facial phenotypes and genes to rare genetic diseases. <i>Sci Data</i> <b>12</b>, 634 (2025). https://doi.org/10.1038/s41597-025-04922-z
FGDD是一个可解释数据集，收集自509篇研究论文。该数据集包含1147条数据记录，涵盖197个致病基因、437个面部表型及211个疾病实体，其中689条记录带有疾病标签。每条数据记录代表一个患者群体，包含人口统计学信息、变异信息及表型信息。<b>完整论文可查阅：</b>An explainable dataset linking facial phenotypes and genes to rare genetic diseases | Scientific Data<b>引用格式：</b>Song, J., He, M., Ren, S. <i>et al.</i> An explainable dataset linking facial phenotypes and genes to rare genetic diseases. <i>Sci Data</i> <b>12</b>, 634 (2025). https://doi.org/10.1038/s41597-025-04922-z
提供机构：
figshare
创建时间：
2025-03-04
