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

Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008). The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease. The American Journal of Human Genetics, 83(5), 610-615. doi:10.1016/j.ajhg.2008.09.017.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7ECD-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7ECE-0
Genre: Journal Article
Alternative Title : Am J Hum Genet

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 Creators:
Robinson, Peter N.1, Author              
Köhler, Sebastian, Author
Bauer, Sebastian, Author
Seelow, Dominik1, Author              
Horn, Denise, Author
Mundlos, Stefan1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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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.

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Title: The American Journal of Human Genetics
  Alternative Title : Am J Hum Genet
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 83 (5) Sequence Number: - Start / End Page: 610 - 615 Identifier: -