The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

• Published in: American journal of human genetics Vol. 83; no. 5; pp. 610 - 615
• Main Authors: Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 17-11-2008; University of Chicago Press; Cell Press; Elsevier
• Subjects: Biological and medical sciences; Computational Biology; Databases, Genetic; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic Diseases, Inborn; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; Ontology; Phenotype; Software; Human; Genetics; Phenotype; Disease; Hereditary
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1016/j.ajhg.2008.09.017

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.