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Volumn 245, Issue , 2017, Pages 581-585

Phenotypic analysis of clinical narratives using human phenotype ontology

Author keywords

Human phenotype ontology; Phenotypic analysis; Semantic annotation

Indexed keywords

HEALTH CARE; SEMANTICS;

EID: 85040510435     PISSN: 09269630     EISSN: 18798365     Source Type: Book Series    
DOI: 10.3233/978-1-61499-830-3-581     Document Type: Conference Paper
Times cited : (19)

References (20)
  • 1
    • 77952822074 scopus 로고    scopus 로고
    • PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
    • Denny, Joshua C, et al. PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics 26 (2010), 1205-1210.
    • (2010) Bioinformatics , vol.26 , pp. 1205-1210
    • Denny1    Joshua, C.2
  • 2
    • 84954358609 scopus 로고    scopus 로고
    • The human phenotype ontology: A tool for annotating and analyzing human hereditary disease
    • Robinson, Peter N., et al The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. The American Journal of Human Genetics 83 (2008), 610-615.
    • (2008) The American Journal of Human Genetics , vol.83 , pp. 610-615
    • Robinson, P.N.1
  • 3
    • 40449118755 scopus 로고    scopus 로고
    • Orphanet: A European database for rare diseases
    • Weinreich, Steffanie S., et al Orphanet: a European database for rare diseases. Nederlands tijdschrift voor geneeskunde 152 (2008), 518-519.
    • (2008) Nederlands Tijdschrift Voor Geneeskunde , vol.152 , pp. 518-519
    • Weinreich, S.S.1
  • 4
    • 64149099583 scopus 로고    scopus 로고
    • DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources
    • Firth, Helen V., et al DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources. The American Journal of Human Genetics 84 (2009), 524-533.
    • (2009) The American Journal of Human Genetics , vol.84 , pp. 524-533
    • Firth, H.V.1
  • 5
    • 13444266370 scopus 로고    scopus 로고
    • Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders
    • Hamosh, Ada, et al. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic acids research 33.suppl 1 (2005): D514-D517.
    • (2005) Nucleic Acids Research , vol.33 , pp. D514-D517
    • Hamosh, A.1
  • 6
    • 0034069495 scopus 로고    scopus 로고
    • Gene ontology: Tool for the unification of biology
    • Ashburner, Michael, et al. Gene ontology: Tool for the unification of biology. Nature Genetics 25 (2000), 25-29.
    • (2000) Nature Genetics , vol.25 , pp. 25-29
    • Ashburner, M.1
  • 7
    • 84987596940 scopus 로고    scopus 로고
    • Automated semantic annotation of rare disease cases: A case study
    • Taboada, Maria, et al. Automated semantic annotation of rare disease cases: a case study. Database 2014 (2014): bau045.
    • (2014) Database , vol.2014 , pp. bau045
    • Taboada, M.1
  • 8
    • 84928789885 scopus 로고    scopus 로고
    • Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
    • Westbury, Sarah K., et al Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Medicine 7 (2015), 1.
    • (2015) Genome Medicine , vol.7 , pp. 1
    • Westbury, S.K.1
  • 9
    • 84977271720 scopus 로고    scopus 로고
    • EHR based genetic testing knowledge base (iGTKB) development
    • Zhu, Qian, et al. EHR based genetic testing knowledge Base (iGTKB) Development. BMC Medical Informatics and decision making 15 (2015), 1.
    • (2015) BMC Medical Informatics and Decision Making , vol.15 , pp. 1
    • Zhu, Q.1
  • 10
    • 0345863927 scopus 로고    scopus 로고
    • The unified medical language system (UMLS): Integrating biomedical terminology
    • Bodenreider, Olivier. The unified medical language system (UMLS): Integrating biomedical terminology. Nucleic acids research 32.suppl 1 (2004): D267-D270.
    • (2004) Nucleic Acids Research , vol.32 , pp. D267-D270
    • Bodenreider, O.1
  • 11
    • 0035752429 scopus 로고    scopus 로고
    • Effective mapping of biomedical text to the UMLS metathesaurus: The MetaMap program
    • American Medical Informatics Association
    • Aronson, Alan R. Effective mapping of biomedical text to the UMLS Metathesaurus: the MetaMap program. Proceedings of the AMIA Symposium. American Medical Informatics Association, 2001.
    • (2001) Proceedings of the AMIA Symposium
    • Aronson, A.R.1
  • 12
    • 33748507359 scopus 로고    scopus 로고
    • Clinical and histopathologic findings of superficial basal cell carcinoma: A comparison with other basal cell carcinoma subtypes
    • Chen, Chih-Chiang, and Chang-Lin Chen. Clinical and histopathologic findings of superficial basal cell carcinoma: a comparison with other basal cell carcinoma subtypes. Journal of the Chinese Medical Association 69 (2006), 364-371.
    • (2006) Journal of the Chinese Medical Association , vol.69 , pp. 364-371
    • Chen, C.-C.1    Chen, C.-L.2
  • 13
    • 67449150231 scopus 로고    scopus 로고
    • Increasing burden of melanoma in the United States
    • Linos, Eleni, et al. Increasing burden of melanoma in the United States. Journal of Investigative Dermatology 129 (2009), 1666-1674.
    • (2009) Journal of Investigative Dermatology , vol.129 , pp. 1666-1674
    • Linos, E.1
  • 15
    • 47549100876 scopus 로고    scopus 로고
    • Central centrifugal cicatricial alopecia
    • Whiting, David A., and Elise A. Olsen. Central centrifugal cicatricial alopecia. Dermatologic Therapy 21 (2008), 268-278.
    • (2008) Dermatologic Therapy , vol.21 , pp. 268-278
    • Whiting, D.A.1    Olsen, E.A.2
  • 17
    • 85040513704 scopus 로고    scopus 로고
    • Available at: http://www.healthline.com/health/wilsons-disease#Overview1
  • 18
    • 84937711841 scopus 로고    scopus 로고
    • Increased prevalence of subcutaneous lipomas in patients with wilson disease
    • Schaefer, Mark, et al. Increased prevalence of subcutaneous lipomas in patients with Wilson disease. Journal of clinical gastroenterology 49 (2015), e61-e63.
    • (2015) Journal of Clinical Gastroenterology , vol.49 , pp. e61-e63
    • Schaefer, M.1
  • 19
    • 84989778427 scopus 로고    scopus 로고
    • Wilson disease with thrombocytopenia (case report)
    • Zhvania, M., et al Wilson disease with thrombocytopenia (case report). Georgian Medical News 237 (2014), 61-64.
    • (2014) Georgian Medical News , vol.237 , pp. 61-64
    • Zhvania, M.1
  • 20
    • 0018874206 scopus 로고
    • Progress in medical information management: Systematized nomenclature of medicine (SNOMED)
    • Cote, Roger A., et al Progress in medical information management: Systematized nomenclature of medicine (SNOMED). JAMA 243 (1980), 756-762.
    • (1980) JAMA , vol.243 , pp. 756-762
    • Cote, R.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.