{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:18:54Z","timestamp":1792664334964,"version":"4.5.0"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"D1","license":[{"start":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T00:00:00Z","timestamp":1699660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U41 HG008735-01A1"],"award-info":[{"award-number":["U41 HG008735-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1U24HG012557-01"],"award-info":[{"award-number":["1U24HG012557-01"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>In 2003, the Human Disease Ontology (DO, https:\/\/disease-ontology.org\/) was established at Northwestern University. In the intervening 20 years, the DO has expanded to become a highly-utilized disease knowledge resource. Serving as the nomenclature and classification standard for human diseases, the DO provides a stable, etiology-based structure integrating mechanistic drivers of human disease. Over the past two decades the DO has grown from a collection of clinical vocabularies, into an expertly curated semantic resource of over 11300 common and rare diseases linking disease concepts through more than 37000 vocabulary cross mappings (v2023-08-08). Here, we introduce the recently launched DO Knowledgebase (DO-KB), which expands the DO\u2019s representation of the diseaseome and enhances the findability, accessibility, interoperability\u00a0and reusability (FAIR) of disease data through a new SPARQL service and new Faceted Search Interface. The DO-KB is an integrated data system, built upon the DO\u2019s semantic disease knowledge backbone, with resources that expose and connect\u00a0the DO\u2019s semantic knowledge with\u00a0disease-related data across Open Linked Data resources. This update includes descriptions of efforts to assess the DO\u2019s global impact and improvements to data quality and content, with emphasis on changes in the last two years.<\/jats:p>","DOI":"10.1093\/nar\/gkad1051","type":"journal-article","created":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T16:58:18Z","timestamp":1698080298000},"page":"D1305-D1314","source":"Crossref","is-referenced-by-count":53,"title":["The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem"],"prefix":"10.1093","volume":"52","author":[{"given":"J Allen","family":"Baron","sequence":"first","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Sanchez-Beato","family":"Johnson","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A","family":"Schor","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8685-0839","authenticated-orcid":false,"given":"Dustin","family":"Olley","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance","family":"Nickel","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Felix","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine, Institute for Genome Sciences , 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Lichenstein","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharine","family":"Bisordi","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rima","family":"Koka","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine , Baltimore, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Greene","sequence":"additional","affiliation":[{"name":"University of Maryland School of Medicine , Baltimore, MD , 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