{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T04:04:24Z","timestamp":1747454664508,"version":"3.40.5"},"reference-count":0,"publisher":"IOS Press","isbn-type":[{"value":"9781643685960","type":"electronic"}],"license":[{"start":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T00:00:00Z","timestamp":1747267200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,15]]},"abstract":"<jats:p>Rare diseases, while individually rare, cumulatively affect a large population, and patients often undergo long and arduous diagnostic odysseys. Toward the goal of supporting earlier diagnosis of rare diseases, we developed generalizable methods of extracting rare diseases and phenotypes from structured electronic health records and clinical notes. We analyzed the distributions of the age of onset of phenotypes per disease to identify disease-phenotype associations, producing a dataset with over 500 thousand associations covering 2300 rare diseases. Disease-phenotype associations are characterized by disease prevalence and mean age of onset of the phenotype to aid phenotype selection according to the priorities of the clinical decision support task.<\/jats:p>","DOI":"10.3233\/shti250286","type":"book-chapter","created":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T08:53:09Z","timestamp":1747385589000},"source":"Crossref","is-referenced-by-count":0,"title":["Identifying Phenotypes for Earlier Diagnosis of Rare Diseases"],"prefix":"10.3233","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4679-805X","authenticated-orcid":false,"given":"Casey N.","family":"Ta","sequence":"first","affiliation":[{"name":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6024-3037","authenticated-orcid":false,"given":"Cong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A."},{"name":"Division of Genetics and Genomics, Department of Pediatrics, Boston Children\u2019s Hospital, Boston, MA, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9624-0214","authenticated-orcid":false,"given":"Chunhua","family":"Weng","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7437","container-title":["Studies in Health Technology and Informatics","Intelligent Health Systems \u2013 From Technology to Data and Knowledge"],"original-title":[],"link":[{"URL":"https:\/\/ebooks.iospress.nl\/pdf\/doi\/10.3233\/SHTI250286","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T08:53:09Z","timestamp":1747385589000},"score":1,"resource":{"primary":{"URL":"https:\/\/ebooks.iospress.nl\/doi\/10.3233\/SHTI250286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,15]]},"ISBN":["9781643685960"],"references-count":0,"URL":"https:\/\/doi.org\/10.3233\/shti250286","relation":{},"ISSN":["0926-9630","1879-8365"],"issn-type":[{"value":"0926-9630","type":"print"},{"value":"1879-8365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,15]]}}}