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The Human Phenotype Ontology

Authors

  • PN Robinson,

    Corresponding author
    1. Charité - Universitätsmedizin Berlin, Institute for Medical Genetics, Augustenburger Platz 1, 13353 Berlin, Germany
    2. Augustenburger Platz 1, 13353 Berlin, Germany
    3. Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany
    • Dr med. Peter N. Robinson, Institut für Medizinische Genetik, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
      Tel.:. +49 30 450566042;
      fax.: +49 30 450569915;
      e-mail: peter.robinson@charite.de

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  • S Mundlos

    1. Charité - Universitätsmedizin Berlin, Institute for Medical Genetics, Augustenburger Platz 1, 13353 Berlin, Germany
    2. Augustenburger Platz 1, 13353 Berlin, Germany
    3. Max Planck Institute for Molecular Genetics, Ihnestraße 63-73, 14195 Berlin, Germany
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Abstract

Robinson PN, Mundlos S. The Human Phenotype Ontology.

A standardized, controlled vocabulary allows phenotypic information to be described in an unambiguous fashion in medical publications and databases. The Human Phenotype Ontology (HPO) is being developed in an effort to provide such a vocabulary. The use of an ontology to capture phenotypic information allows the use of computational algorithms that exploit semantic similarity between related phenotypic abnormalities to define phenotypic similarity metrics, which can be used to perform database searches for clinical diagnostics or as a basis for incorporating the human phenome into large-scale computational analysis of gene expression patterns and other cellular phenomena associated with human disease. The HPO is freely available at http://www.human-phenotype-ontology.org.

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