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Paper Details

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Curr Protoc Hum Genet
21
2019
Exomiser, HPO, Human, PatientArchive, clinical abnormalities, genetic diseases, human, rare genetic disease, whole-
Biological Ontologies, Computational Biology, Databases, Genetic, Diagnosis, Differential, Exome, Genetic Diseases, Inborn, Humans, Phenotype, Software, 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
N Christine ??ien
Orion J Buske
Orion J Buske
Tudor Groza
Tudor Groza
Julius O B Jacobsen
Julius O B JacobsenQueen Mary University of London
Craig McNamara
Nicole Vasilevsky
Nicole Vasilevsky
Nicole VasilevskyOregon Health & Science University
Nicole VasilevskyOregon Health & Science University
Leigh C Carmody
Leigh C Carmody
Leigh C Carmody
Leigh C Carmody
Jean-Philippe Gourdine
Jean-Philippe GourdineOregon Health & Science University
Michael Gargano
Michael Gargano
Julie A McMurry
Julie A McMurryOregon State University
Julie A McMurry
Julie A McMurryOregon State University
Daniel Danis
Daniel Danis
Christopher J Mungall
Christopher J MungallLawrence Berkeley National Laboratory
Christopher J Mungall
Christopher J MungallLawrence Berkeley National Laboratory
Damian Smedley
Damian SmedleyQueen Mary University of London
Melissa A Haendel
Melissa A HaendelOregon State University
Melissa A HaendelOregon Health & Science University
Melissa A Haendel
Melissa A HaendelOregon Health & Science University
Melissa A HaendelOregon State University
Peter N Robinson
Peter N Robinson
Peter N RobinsonInstitute for Systems Genomics, University of Connecticut
Peter N Robinson
Peter N Robinson
Peter N RobinsonInstitute for Systems Genomics, University of Connecticut
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Datasets

Dataset
Description
Source Link
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
Release 1.2