Phenotypic features of human mitochondrial diseases.

The 144 features are selected from a total of 502 features (Table S2) and are caused by defects in 174 nuclear-encoded mitochondrial genes. Every feature is associated with the number of genes shown in parentheses. The hierarchical structure of features within the phenotype ontology was established using standardized MeSH descriptors (not shown). The fourteen CC in bold serve as headers for features within them. Unassigned features are grouped under ‘Miscellaneous’.

本数据集从总计502项特征（附表S2）中筛选得到144项特征，所有特征均由174个核编码线粒体基因的缺陷所引发。每项特征均与括号内标注的基因数量存在对应关联。表型本体论内的特征层级结构，采用标准化医学主题词表（MeSH, Medical Subject Headings）的叙词构建而成（完整结构未予展示）。14项以粗体标注的CC条目，将作为其内部特征的标题。未被归类的特征将被归入"杂项（Miscellaneous）"分组中。