{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T20:27:48Z","timestamp":1776889668199,"version":"3.51.2"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,7,31]],"date-time":"2012-07-31T00:00:00Z","timestamp":1343692800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Med Inform Decis Mak"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1186\/1472-6947-12-78","type":"journal-article","created":{"date-parts":[[2012,7,31]],"date-time":"2012-07-31T14:15:17Z","timestamp":1343744117000},"source":"Crossref","is-referenced-by-count":11,"title":["Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis"],"prefix":"10.1186","volume":"12","author":[{"given":"Mar\u00eda","family":"Taboada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bel\u00e9n","family":"Pilo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriano","family":"Jim\u00e9nez-Escrig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter N","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda J","family":"Sobrido","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,7,31]]},"reference":[{"key":"525_CR1","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1177\/08830738030180091001","volume":"18","author":"A Federico","year":"2003","unstructured":"Federico A, Dotti MT: Cerebrotendinous Xanthomatosis: Clinical Manifestations, Diagnostic Criteria, Pathogenesis, and Therapy. J Child Neurol. 2003, 18: 633-638. 10.1177\/08830738030180091001.","journal-title":"J Child Neurol"},{"key":"525_CR2","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1002\/humu.21468","volume":"32","author":"A Lindblom","year":"2011","unstructured":"Lindblom A, Robinson PN: Bioinformatics for Human Genetics: Promises and Challenges. Hum Mutat. 2011, 32: 495-500. 10.1002\/humu.21468.","journal-title":"Hum Mutat"},{"key":"525_CR3","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1002\/humu.20201","volume":"26","author":"I Fokkema","year":"2005","unstructured":"Fokkema I, den Dunnen J, Taschner P: LOVD: easy creation of a locus specific sequence variation database using an LSDB-in-a-box approach. Hum Mutat. 2005, 26: 63-68. 10.1002\/humu.20201.","journal-title":"Hum Mutat"},{"key":"525_CR4","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4","volume":"15","author":"C Beroud","year":"2000","unstructured":"Beroud C, Collod-Beroud G, Boileau C, Soussi T, Junien C: UMD (Universal Mutation Database): a generic software to build and analyze locus-specific databases. Hum Mutat. 2000, 15: 86-94. 10.1002\/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4.","journal-title":"Hum Mutat"},{"key":"525_CR5","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1002\/humu.20972","volume":"30","author":"J Kaput","year":"2009","unstructured":"Kaput J, Cotton R, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Bl\u00f6cker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, D\u00edaz C, Dobrowolski S, Dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, M\u00f6slein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, T\u00f6pel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS: Contributors to the Human Variome Project Planning Meeting: Planning the Human Variome Project: the Spain report. Hum Mutat. 2009, 30: 496-510. 10.1002\/humu.20972.","journal-title":"Hum Mutat"},{"key":"525_CR6","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1002\/humu.21469","volume":"32","author":"AJ Webb","year":"2011","unstructured":"Webb AJ, Thorisson GA, Brookes AJ: An informatics project and online \u201cKnowledge Centre\u201d supporting modern genotype-to-phenotype research. Hum Mutat. 2011, 32: 543-550. 10.1002\/humu.21469.","journal-title":"Hum Mutat"},{"key":"525_CR7","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.websem.2003.12.003","volume":"1","author":"M Bada","year":"2004","unstructured":"Bada M, Stevens R, Goble C, Gil Y, Ashburner M, Blake JA, Cherry JM, Harris M, Lewis S: A short study on the success of the Gene Ontology. Web Semantics. 2004, 1: 235-240. 10.1016\/j.websem.2003.12.003.","journal-title":"Web Semantics"},{"key":"525_CR8","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1159\/000083539","volume":"58","author":"TG Schulze","year":"2004","unstructured":"Schulze TG, McMahon FJ: Defining the Phenotype in Human Genetic Studies: Forward Genetics and Reverse Phenotyping. Hum Hered. 2004, 58: 131-138. 10.1159\/000083539.","journal-title":"Hum Hered"},{"key":"525_CR9","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1086\/514346","volume":"80","author":"VA McKusick","year":"2007","unstructured":"McKusick VA: Mendelian Inheritance in Man and Its Online Version, OMIM. Am J Hum Genet. 2007, 80: 588-604. 10.1086\/514346.","journal-title":"Am J Hum Genet"},{"key":"525_CR10","doi-asserted-by":"publisher","first-page":"R9","DOI":"10.1186\/gb-2010-11-1-r2","volume":"11","author":"C Mungall","year":"2010","unstructured":"Mungall C, Gkoutos G, Smith C, Haendel MA, Lewis SE, Ashburner M: Integrating phenotype ontologies across multiple species. Genome Biol. 2010, 11: R9-10.1186\/gb-2010-11-1-r9.","journal-title":"Genome Biol"},{"key":"525_CR11","first-page":"S10","volume":"10","author":"K Cheung","year":"2009","unstructured":"Cheung K, Frost HR, Marshall MS: Prud'hommeaux E, Samwald M, Zhao J. Paschke A: A journey to Semantic Web query federation in the life sciences. BMC Bioinformatics. 2009, 10: S10-","journal-title":"Paschke A: A journey to Semantic Web query federation in the life sciences. BMC Bioinformatics"},{"key":"525_CR12","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1186\/1471-2105-8-377","volume":"8","author":"R Hoehndorf","year":"2007","unstructured":"Hoehndorf R, Loebe F, Kelso J, Herre H: Representing default knowledge in biomedical ontologies: Application to the integration of anatomy and phenotype ontologies. BMC Bioinformatics. 2007, 8: 377-10.1186\/1471-2105-8-377.","journal-title":"BMC Bioinformatics"},{"key":"525_CR13","doi-asserted-by":"publisher","first-page":"S2","DOI":"10.1186\/1471-2105-8-S3-S2","volume":"8","author":"A Ruttenberg","year":"2007","unstructured":"Ruttenberg A, Clark T, Bug W, Samwald M, Bodenreider O, Chen H, Doherty D, Forsberg K, Gao Y, Kashyap V, Kinoshita J, Luciano J, Marshall MS, Ogbuji C, Rees J, Stephens S, Wong GT, Wu E, Zaccagnini D, Hongsermeier T, Neumann E, Herman I, Cheung KH: Advancing translational research with the semantic web. BMC Bioinformatics. 2007, 8: S2-","journal-title":"BMC Bioinformatics"},{"key":"525_CR14","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1016\/j.ajhg.2008.09.017","volume":"83","author":"P Robinson","year":"2008","unstructured":"Robinson P, K\u00f6hler S, Bauer S, Seelow D: HornD, Mundlos S: The human phenotype ontology: A tool for annotating and analyzing human hereditary disease. Am J Hum Genet. 2008, 83: 610-15. 10.1016\/j.ajhg.2008.09.017.","journal-title":"Am J Hum Genet"},{"key":"525_CR15","volume-title":"Ontological Engineering","author":"A G\u00f3mez-P\u00e9rez","year":"2004","unstructured":"G\u00f3mez-P\u00e9rez A, Fern\u00e1ndez-L\u00f3pez M, Corcho O: Ontological Engineering. 2004, Berlin, Springer Verlag"},{"key":"525_CR16","unstructured":"G\u00f3mez-P\u00e9rez A, Su\u00e1rez-Figueroa MC: Scenarios for building ontology networks within the NeOn methodology. In Proceedings of the K-CAP: 1\u20134: Redondo Beach. New York: ACM. September 2009, 2009: 183-184."},{"key":"525_CR17","volume-title":"Xantomatosis Cerebrotendinosa en Espa\u00f1a: mutaciones, aspectos cl\u00ednicos y terap\u00e9uticos","author":"B Pilo","year":"2009","unstructured":"Pilo B: Xantomatosis Cerebrotendinosa en Espa\u00f1a: mutaciones, aspectos cl\u00ednicos y terap\u00e9uticos. 2009, PhD thesis, University of Alcal\u00e1 de Henares, Faculty of Medicine"},{"issue":"10","key":"525_CR18","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1111\/j.1468-1331.2011.03439.x","volume":"18","author":"B Pilo","year":"2011","unstructured":"Pilo B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Mu\u00f1iz-P\u00e9rez S, Sobrido MJ: Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J of Neurol. 2011, 18 (10): 1203-1211. 10.1111\/j.1468-1331.2011.03439.x.","journal-title":"Eur J of Neurol"},{"key":"525_CR19","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/1471-2105-12-65","volume":"12","author":"R Cohen","year":"2011","unstructured":"Cohen R, Gefen A, Elhadad M, Birk OS: CSI-OMIM\u2013Clinical Synopsis Search in OMIM. BMC Bioinformatics. 2011, 12: 65-10.1186\/1471-2105-12-65.","journal-title":"BMC Bioinformatics"},{"key":"525_CR20","doi-asserted-by":"publisher","first-page":"W170","DOI":"10.1093\/nar\/gkp440","volume":"37","author":"N Noy","year":"2009","unstructured":"Noy N, Shah N, Whetzel P, Dai B, Dorf M, Griffith N, Jonquet C, Rubin D, Storey M, Chute C, Musen M: BioPortal: ontologies and integrated data resources at the click of a mouse. Nucleic Acids Res. 2009, 37: W170-W173. 10.1093\/nar\/gkp440.","journal-title":"Nucleic Acids Res"},{"key":"525_CR21","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1038\/nbt1346","volume":"25","author":"B Smith","year":"2007","unstructured":"Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W, Goldberg LJ, Eilbeck K, Ireland A: Mungall CJ; OBI Consortium, Leontis N, Rocca-Serra P, Ruttenberg A, Sansone SA, Scheuermann RH, Shah N, Whetzel PL, Lewis S: The OBO foundry: Coordinated evolution of ontologies to support biomedical data integration. Nat Biotechnol. 2007, 25: 1251-1255. 10.1038\/nbt1346.","journal-title":"Nat Biotechnol"},{"key":"525_CR22","volume-title":"OWL web ontology language overview","author":"D McGuinness","year":"2012","unstructured":"McGuinness D, van Harmelen F: OWL web ontology language overview. 2012, [\n                    http:\/\/www.w3.org\/TR\/owl-features\/\n                    \n                  ]"},{"key":"525_CR23","first-page":"229","volume":"3298","author":"Knublauch H, Fergerson R, Noy N, Musen M: The Protege OWL plugin: an open development environment for Semantic Web applications. In Proceedings of the Third ISWC: 7\u201311","year":"2004","unstructured":"Knublauch H, Fergerson R, Noy N, Musen M: The Protege OWL plugin: an open development environment for Semantic Web applications. In Proceedings of the Third ISWC: 7\u201311: Hiroshima: Edited by McIlraith S, Plexousakis D, van Harmelen F. Hiroshima: Springer, LNCS. November 2004, 3298: 229-243.","journal-title":"Hiroshima: Springer, LNCS"},{"key":"525_CR24","volume-title":"In Proceedings of the 8th International Prot\u00e9g\u00e9 Conference","author":"M O'Connor","year":"2005","unstructured":"O'Connor M, Knublauch H, Tu SW, Musen MA: In Proceedings of the 8th International Prot\u00e9g\u00e9 Conference. 2005, Madrid, Prot\u00e9g\u00e9 with Rules Workshop"},{"key":"525_CR25","first-page":"23","volume-title":"SQWRL: a Query Language for OWL","author":"M O'Connor","year":"2009","unstructured":"O'Connor M, Das A: SQWRL: a Query Language for OWL. 2009, In Proceedings of the Fifth International Workshop on OWL, Chantilly, 23-24."},{"key":"525_CR26","first-page":"229","volume":"17","author":"A Aronson","year":"2010","unstructured":"Aronson A, Lang F: An overview of MetaMap: historical perspective and recent advances. JAMIA. 2010, 17: 229-236.","journal-title":"JAMIA"},{"key":"525_CR27","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1111\/j.1399-0004.2010.01436.x","volume":"77","author":"PN Robinson","year":"2010","unstructured":"Robinson PN, Mundlos S: The Human Phenotype Ontology. Clin Genet. 2010, 77: 525-534. 10.1111\/j.1399-0004.2010.01436.x.","journal-title":"Clin Genet"},{"issue":"4","key":"525_CR28","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1186\/1471-2105-9-S4-S3","volume":"9","author":"A Coulet","year":"2008","unstructured":"Coulet A, Sma\u00efl-Tabbone M, Benlian P, Napoli A, Devignes MD: Ontology-guided data preparation for discovering genotype-phenotype relationships. BMC Bioinformatics. 2008, 9 (4): S3-10.1186\/1471-2105-9-S4-S3.","journal-title":"BMC Bioinformatics"},{"key":"525_CR29","first-page":"727","volume-title":"Using an Integrated Ontology and Information Model for Querying and Reasoning about Phenotypes","author":"SW Tu","year":"2008","unstructured":"Tu SW, Tennakoon L, O'Connor M, Shankar R, Das A: Using an Integrated Ontology and Information Model for Querying and Reasoning about Phenotypes. 2008, In Proceedings of AMIA Annu Symp: 8\u201312 November 2008, Washington DC, 727-731."},{"key":"525_CR30","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1002\/humu.21339","volume":"31","author":"S Povey","year":"2010","unstructured":"Povey S: Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG; Ethics Committee of the Human Genome Organization (HUGO): Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat. 2010, 31: 1179-1184. 10.1002\/humu.21339.","journal-title":"Hum Mutat"},{"key":"525_CR31","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/j.websem.2011.06.005","volume":"9","author":"C Jonquet","year":"2011","unstructured":"Jonquet C, LePendu P, Falconer S, Coulet A, Noy NF, Musen MA, Shah NH: NCBO Resource Index: Ontology-Based Search and Mining of Biomedical Resources. Web Semantics. 2011, 9: 316-324. 10.1016\/j.websem.2011.06.005.","journal-title":"Web Semantics"},{"key":"525_CR32","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1093\/bioinformatics\/btr058","volume":"27","author":"R Hoehndorf","year":"2011","unstructured":"Hoehndorf R, Dumontier M, Oellrich A, Wimalaratne S, Rebholz-Schuhmann D, Schofield P, Gkoutos GV: A common layer of interoperability for biomedical ontologies based on OWL EL. Bioinformatics. 2011, 27: 1001-1008. 10.1093\/bioinformatics\/btr058.","journal-title":"Bioinformatics"},{"key":"525_CR33","doi-asserted-by":"publisher","first-page":"135","DOI":"10.3414\/ME9302","volume":"49","author":"B Smith","year":"2010","unstructured":"Smith B, Brochhausen M: Putting biomedical ontologies to work. Methods Inf Med. 2010, 49: 135-40. 10.3414\/ME9302.","journal-title":"Methods Inf Med"},{"key":"525_CR34","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.ajhg.2009.09.003","volume":"85","author":"S K\u00f6hler","year":"2009","unstructured":"K\u00f6hler S, Schulz MH, Krawitz P, Bauer S, D\u00f6lken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN: Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet. 2009, 85: 457-64. 10.1016\/j.ajhg.2009.09.003.","journal-title":"Am J Hum Genet"}],"container-title":["BMC Medical Informatics and Decision Making"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1472-6947-12-78\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1472-6947-12-78.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1472-6947-12-78","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1472-6947-12-78.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T15:10:51Z","timestamp":1548169851000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedinformdecismak.biomedcentral.com\/articles\/10.1186\/1472-6947-12-78"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,31]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["525"],"URL":"https:\/\/doi.org\/10.1186\/1472-6947-12-78","relation":{},"ISSN":["1472-6947"],"issn-type":[{"value":"1472-6947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,31]]},"article-number":"78"}}