{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T21:25:49Z","timestamp":1695849949914},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Purpose The author sought to integrate an ontology of rare diseases with a large ontological model of radiological diagnosis.<\/jats:p>\n               <jats:p>Materials and Methods The Orphanet Rare Disease Ontology (ORDO) comprised 6794 rare diseases. The Radiology Gamuts Ontology (RGO) incorporated 16 197 terms and 53\u2009425 causal relations linking disorders to imaging manifestations. Semi-automated string-matching was used to match ORDO terms to RGO terms.<\/jats:p>\n               <jats:p>Results Of 6794 ORDO terms, 1587 (23.3%) were matched to RGO terms. An additional 700 ORDO terms whose names were hyphenated lists of phenotypic features were added to RGO with causal links from the disease name to the various features. Matched terms were more likely to have higher disease prevalence.<\/jats:p>\n               <jats:p>Conclusions Integrating these ontologies expanded the set of terms and scope of knowledge available for radiological differential diagnosis, and can support translational rare-disease research by linking knowledge of genetics and imaging phenotypes.<\/jats:p>","DOI":"10.1093\/jamia\/ocv020","type":"journal-article","created":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T16:52:04Z","timestamp":1427993524000},"page":"1164-1168","source":"Crossref","is-referenced-by-count":7,"title":["Integrating ontologies of rare diseases and radiological diagnosis"],"prefix":"10.1093","volume":"22","author":[{"suffix":"Jr.","given":"Charles E","family":"Kahn","sequence":"first","affiliation":[{"name":"Department of Radiology, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, 1 Silverstein, Philadelphia, PA 19104, USA, Tel: +1 215-662-3032 , Fax: +1 215-662-7011"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2015,4,1]]},"reference":[{"key":"2020110612595054700_ocv020-B1"},{"key":"2020110612595054700_ocv020-B2"},{"key":"2020110612595054700_ocv020-B3"},{"key":"2020110612595054700_ocv020-B4","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/978-90-481-9485-8_16","article-title":"Cost of illness and economic evaluation in rare diseases","volume":"686","author":"Lopez-Bastida","year":"2010","journal-title":"Adv Exp Med Biol."},{"key":"2020110612595054700_ocv020-B5","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/978-90-481-9485-8_15","article-title":"Quality of life and rare diseases","volume":"686","author":"Rajmil","year":"2010","journal-title":"Adv Exp Med Biol."},{"key":"2020110612595054700_ocv020-B6","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1016\/S0140-6736(08)60872-7","article-title":"Why rare diseases are an important medical and social issue","volume":"371","author":"Schieppati","year":"2008","journal-title":"Lancet."},{"key":"2020110612595054700_ocv020-B7","first-page":"155","article-title":"Ontology","volume-title":"Blackwell Guide to the Philosophy of Computing and Information","author":"Smith","year":"2003"},{"key":"2020110612595054700_ocv020-B8","first-page":"67","article-title":"Biomedical ontologies in action: role in knowledge management, data integration and decision support","author":"Bodenreider","year":"2008","journal-title":"Yearb Med Inform."},{"key":"2020110612595054700_ocv020-B9","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/amiajnl-2011-000523","article-title":"The National Center for Biomedical Ontology","volume":"19","author":"Musen","year":"2012","journal-title":"J Am Med Inform Assoc."},{"key":"2020110612595054700_ocv020-B10","doi-asserted-by":"crossref","first-page":"277","DOI":"10.3233\/SW-2012-0086","article-title":"BioPortal as a dataset of linked biomedical ontologies and terminologies in RDF","volume":"4","author":"Salvadores","year":"2013","journal-title":"Semant Web."},{"key":"2020110612595054700_ocv020-B11","first-page":"1223","article-title":"BioPortal: ontologies and data resources with the click of a mouse","author":"Musen","year":"2008","journal-title":"AMIA Annu Symp Proc."},{"key":"2020110612595054700_ocv020-B12","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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