{"id":"https://openalex.org/W3195374427","doi":"https://doi.org/10.1186/s13326-021-00249-x","title":"Linking common human diseases to their phenotypes; development of a resource for human phenomics","display_name":"Linking common human diseases to their phenotypes; development of a resource for human phenomics","publication_year":2021,"publication_date":"2021-08-23","ids":{"openalex":"https://openalex.org/W3195374427","doi":"https://doi.org/10.1186/s13326-021-00249-x","mag":"3195374427","pmid":"https://pubmed.ncbi.nlm.nih.gov/34425897"},"language":"en","primary_location":{"id":"doi:10.1186/s13326-021-00249-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13326-021-00249-x","pdf_url":"https://jbiomedsem.biomedcentral.com/track/pdf/10.1186/s13326-021-00249-x","source":{"id":"https://openalex.org/S172276550","display_name":"Journal of Biomedical Semantics","issn_l":"2041-1480","issn":["2041-1480"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biomedical Semantics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://jbiomedsem.biomedcentral.com/track/pdf/10.1186/s13326-021-00249-x","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069397549","display_name":"\u015eenay Kafkas","orcid":"https://orcid.org/0000-0001-7509-5786"},"institutions":[{"id":"https://openalex.org/I71920554","display_name":"King Abdullah University of Science and Technology","ror":"https://ror.org/01q3tbs38","country_code":"SA","type":"education","lineage":["https://openalex.org/I71920554"]}],"countries":["SA"],"is_corresponding":true,"raw_author_name":"\u015eenay Kafkas","raw_affiliation_strings":["Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia"],"affiliations":[{"raw_affiliation_string":"Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia","institution_ids":["https://openalex.org/I71920554"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070294716","display_name":"Sara Althubaiti","orcid":"https://orcid.org/0000-0001-5754-8569"},"institutions":[{"id":"https://openalex.org/I71920554","display_name":"King Abdullah University of Science and Technology","ror":"https://ror.org/01q3tbs38","country_code":"SA","type":"education","lineage":["https://openalex.org/I71920554"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Sara Althubaiti","raw_affiliation_strings":["Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia"],"affiliations":[{"raw_affiliation_string":"Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia","institution_ids":["https://openalex.org/I71920554"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089900113","display_name":"Georgios V. Gkoutos","orcid":"https://orcid.org/0000-0002-2061-091X"},"institutions":[{"id":"https://openalex.org/I4210142469","display_name":"Health Data Research UK","ror":"https://ror.org/04rtjaj74","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I4210142469"]},{"id":"https://openalex.org/I79619799","display_name":"University of Birmingham","ror":"https://ror.org/03angcq70","country_code":"GB","type":"education","lineage":["https://openalex.org/I79619799"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Georgios V. Gkoutos","raw_affiliation_strings":["Health Data Research UK, Midlands site, Edgbaston, Birmingham, B15 2TT, United Kingdom","Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, United Kingdom"],"affiliations":[{"raw_affiliation_string":"Health Data Research UK, Midlands site, Edgbaston, Birmingham, B15 2TT, United Kingdom","institution_ids":["https://openalex.org/I4210142469"]},{"raw_affiliation_string":"Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, United Kingdom","institution_ids":["https://openalex.org/I79619799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043808311","display_name":"Robert Hoehndorf","orcid":"https://orcid.org/0000-0001-8149-5890"},"institutions":[{"id":"https://openalex.org/I71920554","display_name":"King Abdullah University of Science and Technology","ror":"https://ror.org/01q3tbs38","country_code":"SA","type":"education","lineage":["https://openalex.org/I71920554"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Robert Hoehndorf","raw_affiliation_strings":["Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia. robert.hoehndorf@kaust.edu.sa","Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia"],"affiliations":[{"raw_affiliation_string":"Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia. robert.hoehndorf@kaust.edu.sa","institution_ids":["https://openalex.org/I71920554"]},{"raw_affiliation_string":"Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955, Saudi Arabia","institution_ids":["https://openalex.org/I71920554"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059588755","display_name":"Paul N. Schofield","orcid":"https://orcid.org/0000-0002-5111-7263"},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Paul N. Schofield","raw_affiliation_strings":["Department of Physiology, Development & Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3EG, United Kingdom"],"affiliations":[{"raw_affiliation_string":"Department of Physiology, Development & Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3EG, United Kingdom","institution_ids":["https://openalex.org/I241749"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5069397549"],"corresponding_institution_ids":["https://openalex.org/I71920554"],"apc_list":{"value":1190,"currency":"GBP","value_usd":1459},"apc_paid":{"value":1190,"currency":"GBP","value_usd":1459},"fwci":0.8945,"has_fulltext":true,"cited_by_count":12,"citation_normalized_percentile":{"value":0.7307706,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":98},"biblio":{"volume":"12","issue":"1","first_page":"17","last_page":"17"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9998000264167786,"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":0.9998000264167786,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9944000244140625,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.993399977684021,"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/phenome","display_name":"Phenome","score":0.6951963901519775},{"id":"https://openalex.org/keywords/phenomics","display_name":"Phenomics","score":0.6925244331359863},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6043093204498291},{"id":"https://openalex.org/keywords/biobank","display_name":"Biobank","score":0.5788164734840393},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"Clinical phenotype","score":0.5265978574752808},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5259411931037903},{"id":"https://openalex.org/keywords/terminology","display_name":"Terminology","score":0.500769853591919},{"id":"https://openalex.org/keywords/ontology","display_name":"Ontology","score":0.48019206523895264},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.4596748650074005},{"id":"https://openalex.org/keywords/semantic-similarity","display_name":"Semantic similarity","score":0.4299909770488739},{"id":"https://openalex.org/keywords/similarity","display_name":"Similarity (geometry)","score":0.4215450882911682},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.4162181615829468},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.413442462682724},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4013291895389557},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.36913764476776123},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.36452436447143555},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.2296483814716339},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.19554683566093445},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.13916921615600586},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.13560980558395386},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.12001001834869385}],"concepts":[{"id":"https://openalex.org/C7952369","wikidata":"https://www.wikidata.org/wiki/Q844116","display_name":"Phenome","level":4,"score":0.6951963901519775},{"id":"https://openalex.org/C98108635","wikidata":"https://www.wikidata.org/wiki/Q6497275","display_name":"Phenomics","level":5,"score":0.6925244331359863},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6043093204498291},{"id":"https://openalex.org/C116567970","wikidata":"https://www.wikidata.org/wiki/Q864217","display_name":"Biobank","level":2,"score":0.5788164734840393},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.5265978574752808},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5259411931037903},{"id":"https://openalex.org/C547195049","wikidata":"https://www.wikidata.org/wiki/Q1725664","display_name":"Terminology","level":2,"score":0.500769853591919},{"id":"https://openalex.org/C25810664","wikidata":"https://www.wikidata.org/wiki/Q44325","display_name":"Ontology","level":2,"score":0.48019206523895264},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.4596748650074005},{"id":"https://openalex.org/C130318100","wikidata":"https://www.wikidata.org/wiki/Q2268914","display_name":"Semantic similarity","level":2,"score":0.4299909770488739},{"id":"https://openalex.org/C103278499","wikidata":"https://www.wikidata.org/wiki/Q254465","display_name":"Similarity (geometry)","level":3,"score":0.4215450882911682},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.4162181615829468},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.413442462682724},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4013291895389557},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36913764476776123},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.36452436447143555},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.2296483814716339},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19554683566093445},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.13916921615600586},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13560980558395386},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.12001001834869385},{"id":"https://openalex.org/C115961682","wikidata":"https://www.wikidata.org/wiki/Q860623","display_name":"Image (mathematics)","level":2,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000080444","descriptor_name":"Phenomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000080444","descriptor_name":"Phenomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000080444","descriptor_name":"Phenomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000080444","descriptor_name":"Phenomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051188","descriptor_name":"Knowledge Bases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":7,"locations":[{"id":"doi:10.1186/s13326-021-00249-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13326-021-00249-x","pdf_url":"https://jbiomedsem.biomedcentral.com/track/pdf/10.1186/s13326-021-00249-x","source":{"id":"https://openalex.org/S172276550","display_name":"Journal of Biomedical Semantics","issn_l":"2041-1480","issn":["2041-1480"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biomedical Semantics","raw_type":"journal-article"},{"id":"pmid:34425897","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34425897","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of biomedical semantics","raw_type":null},{"id":"pmh:oai:repository.kaust.edu.sa:10754/670744","is_oa":true,"landing_page_url":"http://hdl.handle.net/10754/670744","pdf_url":"http://hdl.handle.net/10754/670744","source":{"id":"https://openalex.org/S4306401596","display_name":"King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I71920554","host_organization_name":"King Abdullah University of Science and Technology","host_organization_lineage":["https://openalex.org/I71920554"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:d0d6817ac7ad4aa6b7df1d70783c2e2b","is_oa":true,"landing_page_url":"https://doaj.org/article/d0d6817ac7ad4aa6b7df1d70783c2e2b","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Biomedical Semantics, Vol 12, Iss 1, Pp 1-15 (2021)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8383460","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8383460","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J Biomed Semantics","raw_type":"Text"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/761f2f59-4112-4b06-b5cb-ccd4d1b4b582","is_oa":true,"landing_page_url":"https://research.birmingham.ac.uk/en/publications/761f2f59-4112-4b06-b5cb-ccd4d1b4b582","pdf_url":null,"source":{"id":"https://openalex.org/S4306402634","display_name":"University of Birmingham Research Portal (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Kafkas, \u015e, Althubaiti, S, Gkoutos, G V, Hoehndorf, R & Schofield, P N 2021, 'Linking common human diseases to their phenotypes; development of a resource for human phenomics', Journal of Biomedical Semantics, vol. 12, no. 1, 17. https://doi.org/10.1186/s13326-021-00249-x","raw_type":"article"},{"id":"pmh:oai:pure.atira.dk:publications/761f2f59-4112-4b06-b5cb-ccd4d1b4b582","is_oa":true,"landing_page_url":"https://birmingham.elsevierpure.com/en/publications/761f2f59-4112-4b06-b5cb-ccd4d1b4b582","pdf_url":null,"source":{"id":"https://openalex.org/S4306402634","display_name":"University of Birmingham Research Portal (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Kafkas , \u015e , Althubaiti , S , Gkoutos , G V , Hoehndorf , R & Schofield , P N 2021 , ' Linking common human diseases to their phenotypes; development of a resource for human phenomics ' , Journal of Biomedical Semantics , vol. 12 , no. 1 , 17 . https://doi.org/10.1186/s13326-021-00249-x","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s13326-021-00249-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13326-021-00249-x","pdf_url":"https://jbiomedsem.biomedcentral.com/track/pdf/10.1186/s13326-021-00249-x","source":{"id":"https://openalex.org/S172276550","display_name":"Journal of Biomedical Semantics","issn_l":"2041-1480","issn":["2041-1480"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biomedical Semantics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G2004389736","display_name":null,"funder_award_id":"URF/1/4355-01-01","funder_id":"https://openalex.org/F4320322320","funder_display_name":"King Abdullah University of Science and Technology"},{"id":"https://openalex.org/G2344873991","display_name":null,"funder_award_id":"URF/1/3790-01-01","funder_id":"https://openalex.org/F4320322320","funder_display_name":"King Abdullah University of Science and Technology"},{"id":"https://openalex.org/G3699314141","display_name":null,"funder_award_id":"FCC/1/1976-29-01","funder_id":"https://openalex.org/F4320322320","funder_display_name":"King Abdullah University of Science and Technology"},{"id":"https://openalex.org/G4764494268","display_name":null,"funder_award_id":"FCC/1/1976-28-01","funder_id":"https://openalex.org/F4320322320","funder_display_name":"King Abdullah University of Science and Technology"},{"id":"https://openalex.org/G575036185","display_name":null,"funder_award_id":"FCC/1/197","funder_id":"https://openalex.org/F4320322320","funder_display_name":"King Abdullah University of Science and Technology"},{"id":"https://openalex.org/G5850737185","display_name":null,"funder_award_id":"MC_PC_17228","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320313467","display_name":"Alan Turing Institute","ror":"https://ror.org/035dkdb55"},{"id":"https://openalex.org/F4320322320","display_name":"King Abdullah University of Science and Technology","ror":"https://ror.org/01q3tbs38"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3195374427.pdf","grobid_xml":"https://content.openalex.org/works/W3195374427.grobid-xml"},"referenced_works_count":46,"referenced_works":["https://openalex.org/W1552329178","https://openalex.org/W1593045043","https://openalex.org/W1968898408","https://openalex.org/W1974660612","https://openalex.org/W1978196155","https://openalex.org/W1994127362","https://openalex.org/W2010798628","https://openalex.org/W2013572128","https://openalex.org/W2059313072","https://openalex.org/W2083045667","https://openalex.org/W2110549414","https://openalex.org/W2119943416","https://openalex.org/W2136410628","https://openalex.org/W2138842039","https://openalex.org/W2139315672","https://openalex.org/W2146495783","https://openalex.org/W2147018385","https://openalex.org/W2154140021","https://openalex.org/W2185973722","https://openalex.org/W2244718251","https://openalex.org/W2261990817","https://openalex.org/W2304023334","https://openalex.org/W2308716531","https://openalex.org/W2339819953","https://openalex.org/W2410122609","https://openalex.org/W2558643140","https://openalex.org/W2596895167","https://openalex.org/W2605099106","https://openalex.org/W2737639704","https://openalex.org/W2779933443","https://openalex.org/W2798667089","https://openalex.org/W2899915536","https://openalex.org/W2944540884","https://openalex.org/W2955065634","https://openalex.org/W2973267506","https://openalex.org/W3010305620","https://openalex.org/W3015361071","https://openalex.org/W3018059184","https://openalex.org/W3025060722","https://openalex.org/W3047439085","https://openalex.org/W3106811464","https://openalex.org/W3108991021","https://openalex.org/W3119249589","https://openalex.org/W3166265964","https://openalex.org/W4212919921","https://openalex.org/W4237269304"],"related_works":["https://openalex.org/W3161139340","https://openalex.org/W2796464660","https://openalex.org/W4253869242","https://openalex.org/W206582387","https://openalex.org/W4225296481","https://openalex.org/W1981323832","https://openalex.org/W4299603694","https://openalex.org/W4308273207","https://openalex.org/W2415174987","https://openalex.org/W980314116"],"abstract_inverted_index":{"We":[0,64],"find":[1],"that":[2,13],"our":[3],"text":[4],"mining":[5],"method":[6],"can":[7],"produce":[8],"phenotype":[9,58],"annotations":[10,59],"of":[11,34,55],"diseases":[12],"are":[14,49],"correct":[15],"but":[16],"often":[17],"too":[18,26],"general":[19],"to":[20,28],"have":[21],"significant":[22],"information":[23],"content,":[24],"or":[25],"specific":[27],"accurately":[29],"reflect":[30],"the":[31,35,39,42,56],"typical":[32],"manifestations":[33],"sporadic":[36],"disease.":[37],"On":[38],"other":[40],"hand,":[41],"datasets":[43],"generated":[44],"from":[45],"integrating":[46],"multiple":[47],"knowledgebases":[48],"more":[50,54],"complete":[51],"(i.e.,":[52],"cover":[53],"required":[57],"for":[60],"a":[61],"given":[62],"disease).":[63],"make":[65],"all":[66],"data":[67],"freely":[68],"available":[69],"at":[70],"https://doi.org/10.5281/zenodo.4726713":[71],".":[72]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}