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Paper Details

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
399
2019
Exomiser, HPO, Human, human, human genes, rare disease
Biological Ontologies, Computational Biology, Congenital Abnormalities, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Internet, Knowledge Bases, Phenotype, Rare Diseases, Whole Genome Sequencing
Author NameAffiliation
Sebastian K??hlerCharite Centrum fur Therapieforschung, Charite-Universitatsmedizin Berlin Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, and Berlin Institute of Health
Sebastian K??hler
Sebastian K??hler
Sebastian K??hlerCharite Centrum fur Therapieforschung, Charite-Universitatsmedizin Berlin Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, and Berlin Institute of Health
Sebastian K??hler
Sebastian K??hler
Leigh C Carmody
Leigh C Carmody
Leigh C Carmody
Leigh C Carmody
Nicole Vasilevsky
Nicole VasilevskyOregon Health & Science University
Nicole Vasilevsky
Nicole VasilevskyOregon Health & Science University
Julius O B Jacobsen
Julius O B JacobsenQueen Mary University of London
Daniel Danis
Daniel Danis
Jean-Philippe Gourdine
Jean-Philippe GourdineOregon Health & Science University
Michael Gargano
Michael Gargano
Nomi L Harris
Nomi L HarrisLawrence Berkeley National Laboratory
Nomi L Harris
Nomi L HarrisLawrence Berkeley National Laboratory
Nicolas Matentzoglu
Nicolas MatentzogluEuropean Bioinformatics Institute (EMBL-EBI)
Julie A McMurry
Julie A McMurryLinus Pauling institute, Oregon State University
Julie A McMurry
Julie A McMurryLinus Pauling institute, Oregon State University
David Osumi-Sutherland
David Osumi-SutherlandEuropean Bioinformatics Institute (EMBL-EBI)
David Osumi-Sutherland
David Osumi-SutherlandEuropean Bioinformatics Institute (EMBL-EBI)
Valentina Cipriani
Valentina CiprianiWilliam Harvey Research Institute, Queen Mary University College of London.
Valentina CiprianiUCL Genetics Institute, University College of London.
Valentina CiprianiUCL Institute of Ophthalmology, University College of London.
James P Balhoff
James P BalhoffRenaissance Computing Institute, University of North Carolina at Chapel Hill.
James P Balhoff
James P BalhoffRenaissance Computing Institute, University of North Carolina at Chapel Hill.
Tom Conlin
Tom ConlinLinus Pauling institute, Oregon State University
Tom Conlin
Tom ConlinLinus Pauling institute, Oregon State University
Hannah Blau
Hannah Blau
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Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink