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Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Author information

  • 1Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany. peter.robinson@charite.de

Abstract

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.

PMID:
18950739
[PubMed - indexed for MEDLINE]
PMCID:
PMC2668030
Free PMC Article

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