The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

被引：681

作者：

Robinson, Peter N. ^{[1
,2
]}

Koehler, Sebastian ^{[1
,2
]}

Bauer, Sebastian ^{[1
]}

Seelow, Dominik ^{[1
,3
]}

Horn, Denise ^{[1
]}

Mundlos, Stefan ^{[1
,2
,4
]}

机构：

[1] Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

[2] Charite Univ Med Berlin, Berlin Brandenburg Ctr Regenerat Therapies, D-13353 Berlin, Germany

[3] Charite Univ Med Berlin, Dept Neuropaediat, D-13353 Berlin, Germany

[4] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 83卷 / 05期

关键词：

D O I：

10.1016/j.ajhg.2008.09.017

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：610 / 615

页数：6

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