@article{discovery10062986, title = {Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources}, number = {D1}, volume = {47}, year = {2019}, pages = {D1018--D1027}, journal = {Nucleic Acids Research}, month = {January}, note = {{\copyright} The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/).}, issn = {0305-1048}, author = {K{\"o}hler, S and Carmody, L and Vasilevsky, N and Jacobsen, JOB and Danis, D and Gourdine, J-P and Gargano, M and Harris, NL and Matentzoglu, N and McMurry, JA and Osumi-Sutherland, D and Cipriani, V and Balhoff, JP and Conlin, T and Blau, H and Baynam, G and Palmer, R and Gratian, D and Dawkins, H and Segal, M and Jansen, AC and Muaz, A and Chang, WH and Bergerson, J and Laulederkind, SJF and Y{\"u}ksel, Z and Beltran, S and Freeman, AF and Sergouniotis, PI and Durkin, D and Storm, AL and Hanauer, M and Brudno, M and Bello, SM and Sincan, M and Rageth, K and Wheeler, MT and Oegema, R and Lourghi, H and Della Rocca, MG and Thompson, R and Castellanos, F and Priest, J and Cunningham-Rundles, C and Hegde, A and Lovering, RC and Hajek, C and Olry, A and Notarangelo, L and Similuk, M and Zhang, XA and G{\'o}mez-Andr{\'e}s, D and Lochm{\"u}ller, H and Dollfus, H and Rosenzweig, S and Marwaha, S and Rath, A and Sullivan, K and Smith, C and Milner, JD and Leroux, D and Boerkoel, CF and Klion, A and Carter, MC and Groza, T and Smedley, D and Haendel, MA and Mungall, C and Robinson, PN}, url = {https://doi.org/10.1093/nar/gky1105}, abstract = {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.} }