期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 83, 期 5, 页码 610-615出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2008.09.017
关键词
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资金
- Berlin-Brandenburg Center for Regenerative Therapies (BCRT)
- Bundesministerium fur Bildung und Forschung [0313911]
- Deutsche Forschungsgemeinschaft [SFB 760]
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.
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