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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
Peter N. Robinson ,
Sebastian Köhler ,
Sebastian Bauer ,
Dominik Seelow ,
Denise Horn ,
Stefan Mundlos
November 2008
November 2008
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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.