Article
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
American journal of human genetics - 1 Nov 2008
Robinson Peter N, Köhler Sebastian, Bauer Sebastian, Seelow Dominik, Horn Denise, Mundlos Stefan
Abstract excerpt
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...
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