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

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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