Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and c...

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Main Authors:	Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., Robinson, P.N.
Format:	Journal Article
Language:	English
Published:	OXFORD UNIV PRESS 2019
Subjects:	Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology RD-CONNECT DISEASE VARIANTS PLATFORM MUTATIONS DISCOVERY DATABASES TOOL
Online Access:	http://hdl.handle.net/20.500.11937/83785

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author	Köhler, S. Carmody, L. Vasilevsky, N. Jacobsen, J.O.B. Danis, D. Gourdine, J.P. Gargano, M. Harris, N.L. Matentzoglu, N. McMurry, J.A. Osumi-Sutherland, D. Cipriani, V. Balhoff, J.P. Conlin, T. Blau, H. Baynam, G. Palmer, Richard Gratian, D. Dawkins, H. Segal, M. Jansen, A.C. Muaz, A. Chang, W.H. Bergerson, J. Laulederkind, S.J.F. Yüksel, Z. Beltran, S. Freeman, A.F. Sergouniotis, P.I. Durkin, D. Storm, A.L. Hanauer, M. Brudno, M. Bello, S.M. Sincan, M. Rageth, K. Wheeler, M.T. Oegema, R. Lourghi, H. Della Rocca, M.G. Thompson, R. Castellanos, F. Priest, J. Cunningham-Rundles, C. Hegde, A. Lovering, R.C. Hajek, C. Olry, A. Notarangelo, L. Similuk, M. Zhang, X.A. Gómez-Andrés, D. Lochmüller, H. Dollfus, H. Rosenzweig, S. Marwaha, S. Rath, A. Sullivan, K. Smith, C. Milner, J.D. Leroux, D. Boerkoel, C.F. Klion, A. Carter, M.C. Groza, T. Smedley, D. Haendel, M.A. Mungall, C. Robinson, P.N.
author_facet	Köhler, S. Carmody, L. Vasilevsky, N. Jacobsen, J.O.B. Danis, D. Gourdine, J.P. Gargano, M. Harris, N.L. Matentzoglu, N. McMurry, J.A. Osumi-Sutherland, D. Cipriani, V. Balhoff, J.P. Conlin, T. Blau, H. Baynam, G. Palmer, Richard Gratian, D. Dawkins, H. Segal, M. Jansen, A.C. Muaz, A. Chang, W.H. Bergerson, J. Laulederkind, S.J.F. Yüksel, Z. Beltran, S. Freeman, A.F. Sergouniotis, P.I. Durkin, D. Storm, A.L. Hanauer, M. Brudno, M. Bello, S.M. Sincan, M. Rageth, K. Wheeler, M.T. Oegema, R. Lourghi, H. Della Rocca, M.G. Thompson, R. Castellanos, F. Priest, J. Cunningham-Rundles, C. Hegde, A. Lovering, R.C. Hajek, C. Olry, A. Notarangelo, L. Similuk, M. Zhang, X.A. Gómez-Andrés, D. Lochmüller, H. Dollfus, H. Rosenzweig, S. Marwaha, S. Rath, A. Sullivan, K. Smith, C. Milner, J.D. Leroux, D. Boerkoel, C.F. Klion, A. Carter, M.C. Groza, T. Smedley, D. Haendel, M.A. Mungall, C. Robinson, P.N.
author_sort	Köhler, S.
building	Curtin Institutional Repository
collection	Online Access
description	The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.
first_indexed	2025-11-14T11:22:00Z
format	Journal Article
id	curtin-20.500.11937-83785
institution	Curtin University Malaysia
institution_category	Local University
language	English
last_indexed	2025-11-14T11:22:00Z
publishDate	2019
publisher	OXFORD UNIV PRESS
recordtype	eprints
repository_type	Digital Repository
spelling	curtin-20.500.11937-837852021-06-23T04:25:15Z Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources Köhler, S. Carmody, L. Vasilevsky, N. Jacobsen, J.O.B. Danis, D. Gourdine, J.P. Gargano, M. Harris, N.L. Matentzoglu, N. McMurry, J.A. Osumi-Sutherland, D. Cipriani, V. Balhoff, J.P. Conlin, T. Blau, H. Baynam, G. Palmer, Richard Gratian, D. Dawkins, H. Segal, M. Jansen, A.C. Muaz, A. Chang, W.H. Bergerson, J. Laulederkind, S.J.F. Yüksel, Z. Beltran, S. Freeman, A.F. Sergouniotis, P.I. Durkin, D. Storm, A.L. Hanauer, M. Brudno, M. Bello, S.M. Sincan, M. Rageth, K. Wheeler, M.T. Oegema, R. Lourghi, H. Della Rocca, M.G. Thompson, R. Castellanos, F. Priest, J. Cunningham-Rundles, C. Hegde, A. Lovering, R.C. Hajek, C. Olry, A. Notarangelo, L. Similuk, M. Zhang, X.A. Gómez-Andrés, D. Lochmüller, H. Dollfus, H. Rosenzweig, S. Marwaha, S. Rath, A. Sullivan, K. Smith, C. Milner, J.D. Leroux, D. Boerkoel, C.F. Klion, A. Carter, M.C. Groza, T. Smedley, D. Haendel, M.A. Mungall, C. Robinson, P.N. Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology RD-CONNECT DISEASE VARIANTS PLATFORM MUTATIONS DISCOVERY DATABASES TOOL The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes. 2019 Journal Article http://hdl.handle.net/20.500.11937/83785 10.1093/nar/gky1105 English http://creativecommons.org/licenses/by/4.0/ OXFORD UNIV PRESS fulltext
spellingShingle	Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology RD-CONNECT DISEASE VARIANTS PLATFORM MUTATIONS DISCOVERY DATABASES TOOL Köhler, S. Carmody, L. Vasilevsky, N. Jacobsen, J.O.B. Danis, D. Gourdine, J.P. Gargano, M. Harris, N.L. Matentzoglu, N. McMurry, J.A. Osumi-Sutherland, D. Cipriani, V. Balhoff, J.P. Conlin, T. Blau, H. Baynam, G. Palmer, Richard Gratian, D. Dawkins, H. Segal, M. Jansen, A.C. Muaz, A. Chang, W.H. Bergerson, J. Laulederkind, S.J.F. Yüksel, Z. Beltran, S. Freeman, A.F. Sergouniotis, P.I. Durkin, D. Storm, A.L. Hanauer, M. Brudno, M. Bello, S.M. Sincan, M. Rageth, K. Wheeler, M.T. Oegema, R. Lourghi, H. Della Rocca, M.G. Thompson, R. Castellanos, F. Priest, J. Cunningham-Rundles, C. Hegde, A. Lovering, R.C. Hajek, C. Olry, A. Notarangelo, L. Similuk, M. Zhang, X.A. Gómez-Andrés, D. Lochmüller, H. Dollfus, H. Rosenzweig, S. Marwaha, S. Rath, A. Sullivan, K. Smith, C. Milner, J.D. Leroux, D. Boerkoel, C.F. Klion, A. Carter, M.C. Groza, T. Smedley, D. Haendel, M.A. Mungall, C. Robinson, P.N. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
title	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
title_full	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
title_fullStr	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
title_full_unstemmed	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
title_short	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
title_sort	expansion of the human phenotype ontology (hpo) knowledge base and resources
topic	Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology RD-CONNECT DISEASE VARIANTS PLATFORM MUTATIONS DISCOVERY DATABASES TOOL
url	http://hdl.handle.net/20.500.11937/83785

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

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