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  The human phenotype ontology.

Robinson, P. N., & Mundlos, S. (2010). The human phenotype ontology. Clinical Genetics, 77(6), 525-534. doi:10.1111/j.1399-0004.2010.01436.x.

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Genre: Journal Article
Alternative Title : Clin Genet

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j.1399-0004.2010.01436.x.pdf (Any fulltext), 2MB
 
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 Creators:
Robinson, P. N.1, Author           
Mundlos, S.1, Author           
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1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: biomedical ontologies; differential diagnosis; diseasome; Human Phenotype Ontology; Phenomizer
 Abstract: 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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Language(s): eng - English
 Dates: 2010-04-19
 Publication Status: Issued
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Title: Clinical Genetics
  Alternative Title : Clin Genet
Source Genre: Journal
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Pages: - Volume / Issue: 77 (6) Sequence Number: - Start / End Page: 525 - 534 Identifier: ISSN: 0009-9163