Human Phenotype Ontology

Known as: HPO 
 
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual… (More)
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2015
2015
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven… (More)
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Highly Cited
2014
Highly Cited
2014
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured… (More)
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Highly Cited
2014
Highly Cited
2014
Less than half of patients with suspected genetic disease receive a molecular diagnosis. We have therefore integrated next… (More)
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Highly Cited
2011
Highly Cited
2011
We isolated the postsynaptic density from human neocortex (hPSD) and identified 1,461 proteins. hPSD mutations cause 133… (More)
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Review
2010
Review
2010
A standardized, controlled vocabulary allows phenotypic information to be described in an unambiguous fashion in medical… (More)
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Highly Cited
2009
Highly Cited
2009
The differential diagnostic process attempts to identify candidate diseases that best explain a set of clinical features. This… (More)
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Highly Cited
2008
Highly Cited
2008
There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but… (More)
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Highly Cited
2003
Highly Cited
2003
Atherosclerosis is a low-grade inflammatory disease involving leukocytes, lipids, and glucose leading to endothelial dysfunction… (More)
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Highly Cited
2003
Highly Cited
2003
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In order to improve the trophic state of Lake Sempach, a eutrophied lake in central Switzerland, its external phosphorus (P) load… (More)
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