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1. Full Text The Human Phenotype Ontology in 2017
by Kohler, S and Vasilevsky, N.A and Engelstad, M and Foster, E and McMurry, J and Ayme, S and Baynam, G and Bello, S.M and Boerkoel, C.F and Boycott, K.M and Brudno, M and Buske, O.J and Chinnery, P.F and Cipriani, V and Connell, L.E and Dawkins, H.J and DeMare, L.E and Devereau, A.D and Vries, B.B. de and Firth, H.V and Freson, K and Greene, D and Hamosh, A and Helbig, I and Hum, C and Jahn, J.A and James, R and Krause, R and Laulederkind, S.J.F and Lochmuller, H and Lyon, G.J and Ogishima, S and Olry, A and Ouwehand, W.H and Pontikos, N and Rath, A and Schaefer, F and Scott, R.H and Segal, M and Sergouniotis, P.I and Sever, R and Smith, C.L and Straub, V and Thompson, R and Turner, C and Turro, E and Veltman, M.W and Vulliamy, T and Yu, J and Ziegenweidt, J. von and Zankl, A and Zuchner, S and Zemojtel, T and Jacobsen, J.O and Groza, T and Smedley, D and Mungall, C.J and Haendel, M and Robinson, P.N and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Nucleic acids research, ISSN 0305-1048, 2017, Volume 45, Issue 1, pp. D865 - d876
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Computational Biology - methods | Phenotype | Algorithms | Biological Ontologies | Humans | Rare Diseases - diagnosis | Genetic Association Studies - methods | Software | Genomics - methods | Rare Diseases - etiology | Translational Medical Research - methods | Precision Medicine - methods | Index Medicus | BASIC BIOLOGICAL SCIENCES | Database Issue
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2. Full Text The Human Phenotype Ontology
by Robinson, PN and Mundlos, S
Clinical genetics, ISSN 0009-9163, 06/2010, Volume 77, Issue 6, pp. 525 - 534
differential diagnosis | biomedical ontologies | Phenomizer | diseasome | Human Phenotype Ontology | Differential diagnosis | Diseasome | Biomedical ontologies | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Computational Biology - methods | Gene Expression | Phenotype | Algorithms | Vocabulary, Controlled | Humans | Databases, Genetic | Molecular genetics | Analysis | Online searching | Genetic aspects | Internet/Web search services | Database searching | Gene expression | Genotype & phenotype | Genetics | Databases | Standardization | Index Medicus | Indexing in process
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3. Full Text Uberon, an integrative multi-species anatomy ontology
by Mungall, Christopher J and Torniai, Carlo and Gkoutos, Georgios V and Lewis, Suzanna E and Haendel, Melissa A
Genome Biology, ISSN 1474-7596, 01/2012, Volume 13, Issue 1, pp. R5 - R5
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Phenotype | Anatomy, Comparative | Species Specificity | Humans | Classification | Computational Biology | Software | Databases, Factual | Index Medicus | Method
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4. Full Text HPO2GO: Prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences
by Doğan, Tunca
PeerJ (San Francisco, CA), ISSN 2167-8359, 2018, Volume 2018, Issue 8, pp. e5298 - e5298
Gene ontology | Cross ontology mapping | Ontological term prediction | Statistical resampling | Human phenotype ontology | Predictive performance analysis | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Proteins | Phenotype | Genetic disorders | Ontology | Causes of | Health aspects | Methods | Phenotypes | Automation | Disease | Laboratories | Genes | Data processing | Consortia | Annotations | Databases | Computer applications | Mutation | Molecular biology | Gene mapping | Bioinformatics | Informatics
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5. Full Text The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
by Robinson, Peter N and Köhler, Sebastian and Bauer, Sebastian and Seelow, Dominik and Horn, Denise and Mundlos, Stefan
American journal of human genetics, ISSN 0002-9297, 11/2008, Volume 83, Issue 5, pp. 610 - 615
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Databases, Genetic | Genetic Diseases, Inborn | Phenotype | Software | Humans | Computational Biology | Molecular genetics | Genetic aspects | Ontology | Genotype & phenotype | Genetic disorders | Index Medicus | Report
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6. Full Text The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
by Kohler, S and Doelken, S.C and Mungall, C.J and Bauer, S and Firth, H.V and Bailleul-Forestier, I and Black, G.C.M and Brown, D.L and Brudno, M and Campbell, J and FitzPatrick, D.R and Eppig, J.T and Jackson, A.P and Freson, K and Girdea, M and Helbig, I and Hurst, J.A and Jahn, J and Jackson, L.G and Kelly, A.M and Ledbetter, D.H and Mansour, S and Martin, C.L and Moss, C and Mumford, A and Ouwehand, W.H and Park, S.M and Riggs, E.R and Scott, R.H and Sisodiya, S and Vooren, S. van der and Wapner, R.J and Wilkie, A.O and Wright, C.F and Silfhout, A.T. van and Leeuw, N. de and Vries, B. de and Washingthon, N.L and Smith, C.L and Westerfield, M and Schofield, P and Ruef, B.J and Gkoutos, G.V and Haendel, M and Smedley, D and Lewis, S.E and Robinson, P.N
Nucleic acids research, ISSN 0305-1048, 2014, Volume 42, Issue 1, pp. D966 - 74
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Phenotype | Animals | Biological Ontologies | Genomics | Humans | Genetic Diseases, Inborn - genetics | Mice | Internet | Genetic Diseases, Inborn - diagnosis | Databases, Factual | Index Medicus | VI. Genomic variation, diseases and drugs
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7. Full Text Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
by Köhler, Sebastian and Carmody, Leigh and Vasilevsky, Nicole and Jacobsen, Julius O.B and Danis, Daniel and Gourdine, Jean Philippe and Gargano, Michael and Harris, Nomi L and Matentzoglu, Nicolas and McMurry, Julie A and Osumi-Sutherland, David and Cipriani, Valentina and Balhoff, James P and Conlin, Tom and Blau, Hannah and Baynam, Gareth and Palmer, Richard and Gratian, Dylan and Dawkins, Hugh and Segal, Michael and Jansen, Anna C and Muaz, Ahmed and Chang, Willie H and Bergerson, Jenna and Laulederkind, Stanley J.F and Yüksel, Zafer and Beltran, Sergi and Freeman, Alexana F and Sergouniotis, Panagiotis I and Durkin, Daniel and Storm, Anea L and Hanauer, Marc and Brudno, Michael and Bello, Susan M and Sincan, Murat and Rageth, Kayli and Wheeler, Matthew T and Oegema, Renske and Lourghi, Halima and Della Rocca, Maria G and Thompson, Rachel and Castellanos, Francisco and Priest, James and Cunningham-Rundles, Charlotte and Hegde, Ayushi and Lovering, Ruth C and Hajek, Catherine and Olry, Annie and Notarangelo, Luigi and Similuk, Morgan and Zhang, Xingmin A and Gómez-Anés, David and Lochmüller, Hanns and Dollfus, Hélène and Rosenzweig, Sergio and Marwaha, Shruti and Rath, Ana and Sullivan, Kathleen and Smith, Cynthia and Milner, Joshua D and Leroux, Dorothée and Boerkoel, Cornelius F and Klion, Amy and Carter, Melody C and Groza, Tudor and Smedley, Damian and Haendel, Melissa A and Mungall, Chris and Robinson, Peter N
Nucleic acids research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D1018 - D1027
Genetics | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Rare Diseases - genetics | Computational Biology - methods | Genetic Predisposition to Disease - genetics | Knowledge Bases | Biological Ontologies | Humans | Rare Diseases - diagnosis | Databases, Genetic | Whole Genome Sequencing - methods | Congenital Abnormalities - diagnosis | Genetic Variation | Phenotype | Congenital Abnormalities - genetics | Internet | Index Medicus | Database Issue
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8. Full Text The Gene Ontology (GO) Cellular Component Ontology: Integration with SAO (Subcellular Anatomy Ontology) and other recent developments
by Roncaglia, Paola and Martone, Maryann E and Hill, David P and Berardini, Tanya Z and Foulger, Rebecca E and Imam, Fahim T and Drabkin, Harold and Mungall, Christopher J and Lomax, Jane
Journal of biomedical semantics, ISSN 2041-1480, 10/2013, Volume 4, Issue 1, pp. 20 - 20
Gene ontology | Cellular component ontology | Neuroscience | Ontology integration | Neuroscience information framework | Subcellular anatomy ontology | Annotation | Ontology language | Life Sciences & Biomedicine | Science & Technology | Mathematical & Computational Biology | Genetic research | Medicine, Experimental | Medical research | Neurosciences | Controlled vocabularies | Medical informatics | Phenotypes | Ontology | Knowledge representation | Nervous system | Web Ontology Language-OWL | Anatomy | Biological activity | Proteins | Annotations | Spatial data | Semantics | Life sciences
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9. Full Text InfAcrOnt: Calculating cross-ontology term similarities using information flow by a random walk
by Cheng, Liang and Jiang, Yue and Ju, Hong and Sun, Jie and Peng, Jiajie and Zhou, Meng and Hu, Yang
BMC genomics, ISSN 1471-2164, 01/2018, Volume 19, Issue Suppl 1, pp. 919 - 919
Biomedical ontology | Term similarities | Information flow | Random walk | Phenotype | Ontology | Analysis | Innovations | Genetic research | Models | Gene expression | Index Medicus
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