{"id":"https://openalex.org/W792754779","doi":"https://doi.org/10.1007/978-3-319-19066-2_12","title":"Integration of Disease Entries Across OMIM, Orphanet, and a Proprietary Knowledge Base","display_name":"Integration of Disease Entries Across OMIM, Orphanet, and a Proprietary Knowledge Base","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W792754779","doi":"https://doi.org/10.1007/978-3-319-19066-2_12","mag":"792754779"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-319-19066-2_12","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-319-19066-2_12","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"},"type":"conference-paper","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078774449","display_name":"Maori Ito","orcid":null},"institutions":[{"id":"https://openalex.org/I4210086383","display_name":"National Institute of Biomedical Innovation, Health and Nutrition","ror":"https://ror.org/001rkbe13","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210086383"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Maori Ito","raw_affiliation_strings":["National Institute of Biomedical Innovation, 7-6-8 Saito-Asagi, Ibaraki-City, Osaka, 567-0085, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Biomedical Innovation, 7-6-8 Saito-Asagi, Ibaraki-City, Osaka, 567-0085, Japan","institution_ids":["https://openalex.org/I4210086383"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064087878","display_name":"Shinichi Nakagawa","orcid":"https://orcid.org/0000-0002-7765-5182"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shin\u2019ichi Nakagawa","raw_affiliation_strings":["Research Institute of Info-Communication Medicine, 5-17-11-106 Honcho, Koganei city, Tokyo, 184-0004, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Info-Communication Medicine, 5-17-11-106 Honcho, Koganei city, Tokyo, 184-0004, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061134485","display_name":"Kenji Mizuguchi","orcid":"https://orcid.org/0000-0003-3021-7078"},"institutions":[{"id":"https://openalex.org/I4210086383","display_name":"National Institute of Biomedical Innovation, Health and Nutrition","ror":"https://ror.org/001rkbe13","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210086383"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kenji Mizuguchi","raw_affiliation_strings":["National Institute of Biomedical Innovation, 7-6-8 Saito-Asagi, Ibaraki-City, Osaka, 567-0085, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Biomedical Innovation, 7-6-8 Saito-Asagi, Ibaraki-City, Osaka, 567-0085, Japan","institution_ids":["https://openalex.org/I4210086383"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027520256","display_name":"Takashi Okumura","orcid":"https://orcid.org/0000-0001-8643-2864"},"institutions":[{"id":"https://openalex.org/I4210087842","display_name":"National Institute of Public Health","ror":"https://ror.org/0024aa414","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210087842"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Takashi Okumura","raw_affiliation_strings":["National Institute of Public Health, 2-3-6 Minami, Wako-shi, Saitama, 351-0197, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Public Health, 2-3-6 Minami, Wako-shi, Saitama, 351-0197, Japan","institution_ids":["https://openalex.org/I4210087842"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5027520256"],"corresponding_institution_ids":["https://openalex.org/I4210087842"],"apc_list":{"value":5000,"currency":"EUR","value_usd":5392},"apc_paid":null,"fwci":2.3541,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.8627375,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":null,"issue":null,"first_page":"120","last_page":"130"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9997000098228455,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9997000098228455,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10215","display_name":"Semantic Web and Ontologies","score":0.9958000183105469,"subfield":{"id":"https://openalex.org/subfields/1702","display_name":"Artificial Intelligence"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9926000237464905,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.8162453770637512},{"id":"https://openalex.org/keywords/knowledge-base","display_name":"Knowledge base","score":0.6370548009872437},{"id":"https://openalex.org/keywords/inheritance","display_name":"Inheritance (genetic algorithm)","score":0.5881233215332031},{"id":"https://openalex.org/keywords/process","display_name":"Process (computing)","score":0.5809363126754761},{"id":"https://openalex.org/keywords/data-integration","display_name":"Data integration","score":0.5323313474655151},{"id":"https://openalex.org/keywords/matching","display_name":"Matching (statistics)","score":0.5231196284294128},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.5024621486663818},{"id":"https://openalex.org/keywords/information-integration","display_name":"Information integration","score":0.46763327717781067},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.4201650619506836},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.32548725605010986},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.3221089839935303},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.15917015075683594}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.8162453770637512},{"id":"https://openalex.org/C4554734","wikidata":"https://www.wikidata.org/wiki/Q593744","display_name":"Knowledge base","level":2,"score":0.6370548009872437},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.5881233215332031},{"id":"https://openalex.org/C98045186","wikidata":"https://www.wikidata.org/wiki/Q205663","display_name":"Process (computing)","level":2,"score":0.5809363126754761},{"id":"https://openalex.org/C72634772","wikidata":"https://www.wikidata.org/wiki/Q386824","display_name":"Data integration","level":2,"score":0.5323313474655151},{"id":"https://openalex.org/C165064840","wikidata":"https://www.wikidata.org/wiki/Q1321061","display_name":"Matching (statistics)","level":2,"score":0.5231196284294128},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.5024621486663818},{"id":"https://openalex.org/C33326189","wikidata":"https://www.wikidata.org/wiki/Q17092450","display_name":"Information integration","level":2,"score":0.46763327717781067},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.4201650619506836},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.32548725605010986},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.3221089839935303},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.15917015075683594},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.0},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-3-319-19066-2_12","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-319-19066-2_12","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G6499554064","display_name":"Development of a target discovery platform by integrating data warehousing and protein function prediction","funder_award_id":"25430186","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W150479364","https://openalex.org/W2019543926","https://openalex.org/W2053102389","https://openalex.org/W2055089763","https://openalex.org/W2072551288","https://openalex.org/W2084594962","https://openalex.org/W2138105615","https://openalex.org/W2159583324","https://openalex.org/W2161549461","https://openalex.org/W2165428180","https://openalex.org/W2186656051","https://openalex.org/W2540149843","https://openalex.org/W2555756618","https://openalex.org/W2611894836","https://openalex.org/W3004104752","https://openalex.org/W4239491223"],"related_works":["https://openalex.org/W2355440778","https://openalex.org/W2064717691","https://openalex.org/W2164160537","https://openalex.org/W2372493300","https://openalex.org/W2391399503","https://openalex.org/W4244644848","https://openalex.org/W2341628596","https://openalex.org/W2110778011","https://openalex.org/W4255070144","https://openalex.org/W2171244245"],"abstract_inverted_index":null,"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-08-04T08:18:43.703281","created_date":"2025-10-10T00:00:00"}