{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T12:53:25Z","timestamp":1767876805295,"version":"3.49.0"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2016,10,2]],"date-time":"2016-10-02T00:00:00Z","timestamp":1475366400000},"content-version":"vor","delay-in-days":2172,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/uk\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: Phenotypic information is important for the analysis of the molecular mechanisms underlying disease. A formal ontological representation of phenotypic information can help to identify, interpret and infer phenotypic traits based on experimental findings. The methods that are currently used to represent data and information about phenotypes fail to make the semantics of the phenotypic trait explicit and do not interoperate with ontologies of anatomy and other domains. Therefore, valuable resources for the analysis of phenotype studies remain unconnected and inaccessible to automated analysis and reasoning.<\/jats:p>\n               <jats:p>Results: We provide a framework to formalize phenotypic descriptions and make their semantics explicit. Based on this formalization, we provide the means to integrate phenotypic descriptions with ontologies of other domains, in particular anatomy and physiology. We demonstrate how our framework leads to the capability to represent disease phenotypes, perform powerful queries that were not possible before and infer additional knowledge.<\/jats:p>\n               <jats:p>Availability: \u00a0http:\/\/bioonto.de\/pmwiki.php\/Main\/PheneOntology<\/jats:p>\n               <jats:p>Contact: \u00a0rh497@cam.ac.uk<\/jats:p>","DOI":"10.1093\/bioinformatics\/btq578","type":"journal-article","created":{"date-parts":[[2010,10,24]],"date-time":"2010-10-24T00:13:41Z","timestamp":1287879221000},"page":"3112-3118","source":"Crossref","is-referenced-by-count":41,"title":["Interoperability between phenotype and anatomy ontologies"],"prefix":"10.1093","volume":"26","author":[{"given":"Robert","family":"Hoehndorf","sequence":"first","affiliation":[{"name":"1 European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD and 2Department of Genetics, University of Cambridge, Downing Street, Cambridge, UK"},{"name":"1 European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD and 2Department of Genetics, University of Cambridge, Downing Street, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anika","family":"Oellrich","sequence":"additional","affiliation":[{"name":"1 European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD and 2Department of Genetics, University of Cambridge, Downing Street, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dietrich","family":"Rebholz-Schuhmann","sequence":"additional","affiliation":[{"name":"1 European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD and 2Department of Genetics, University of Cambridge, Downing Street, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2010,10,22]]},"reference":[{"key":"2023012508034485100_B1","article-title":"The ontology of primary immunodeficiency diseases (PIDs): using PIDs to rethink the ontology of phenotypes","volume-title":"Proceedings of \u201cOntologies in Biomedicine and Life Sciences\u201d","author":"Adams","year":"2010"},{"key":"2023012508034485100_B2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology. 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