The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 18950739.
- Also identified by DOI 10.1016/j.ajhg.2008.09.017 and PMC identifier 2668030.
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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.
Medical subject headings
- Databases, Genetic
- Genetic Diseases, Inborn
- Phenotype