The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
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DOI：
10.1016/j.ajhg.2008.09.017
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发表时间：
2008-11-07
影响因子：
9.8
通讯作者：
Mundlos, Stefan
中科院分区：
文献类型：
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作者：
Robinson, Peter N.;Koehler, Sebastian;Mundlos, Stefan
人类有成千上万种遗传性疾病，每种疾病都有特定的表型特征组合，但由于缺乏足够的计算数据结构，表型数据的计算分析受到阻碍。因此，我们开发了一个人类表型本体（HPO），其中有超过8000个术语代表个体表型异常，并使用HPO的术语注释了在线孟德尔遗传中的所有临床条目。我们表明，HPO能够以一种有用且高度显著的方式捕获疾病之间的表型相似性。
There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysis of phenotypic data has been hampered by lack of adequate computational data structures. Therefore, we have developed a Human Phenotype Ontology (HPO) with over 8000 terms representing individual phenotypic anomalies and have annotated all clinical entries in Online Mendelian Inheritance in Man with the terms of the HPO. We show that the HPO is able to Capture phenotypic similarities between diseases in a useful and highly significant fashion.