The Human Phenotype Ontology (HPO) was created in 2008 at the Charité to serve as a standardized vocabulary of phenotypic abnormalities that have been seen in human disease. Applications for the data in the ontology include clinical diagnostics, mapping between phenotypes of model organisms, and as a standard vocabulary for clinical databases. Clinical annotations within the HPO are sought from the medical and genetics community to improve the ontology.
^Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, et al. (January 2014). "The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data". Nucleic Acids Research. 42 (Database issue): D966-74. doi:10.1093/nar/gkt1026. PMC3965098. PMID 24217912.
^Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S (November 2008). "The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease". American Journal of Human Genetics. 83 (5): 610–5. doi:10.1016/j.ajhg.2008.09.017. PMC2668030. PMID 18950739.
^Robinson PN, Mundlos S (June 2010). "The human phenotype ontology". Clinical Genetics. 77 (6): 525–34. doi:10.1111/j.1399-0004.2010.01436.x. PMC5210535. PMID 20412080.
^Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN (September 2012). "Ontological phenotype standards for neurogenetics". Human Mutation. 33 (9): 1333–9. doi:10.1002/humu.22112. PMID 22573485.
External linksedit
Human Phenotype Ontology Website
This anatomy article is a stub. You can help Wikipedia by expanding it.
human, phenotype, ontology, formal, ontology, human, phenotypes, developed, part, monarch, initiative, collaboration, with, members, open, biomedical, ontologies, foundry, currently, contains, over, terms, over, annotations, hereditary, diseases, data, from, o. The Human Phenotype Ontology HPO is a formal ontology of human phenotypes 1 2 3 4 Developed as part of the Monarch Initiative in collaboration with members of the Open Biomedical Ontologies Foundry HPO currently contains over 13 000 terms and over 156 000 annotations to hereditary diseases Data from Online Mendelian Inheritance in Man and medical literature were used to generate the terms currently in the HPO The ontology contains over 50 000 annotations between phenotypes and hereditary disease Contents 1 Motivation 2 See also 3 References 4 External linksMotivation editThe Human Phenotype Ontology HPO was created in 2008 at the Charite to serve as a standardized vocabulary of phenotypic abnormalities that have been seen in human disease Applications for the data in the ontology include clinical diagnostics mapping between phenotypes of model organisms and as a standard vocabulary for clinical databases Clinical annotations within the HPO are sought from the medical and genetics community to improve the ontology See also editDisease Ontology Gene OntologyReferences edit Kohler S Doelken SC Mungall CJ Bauer S Firth HV Bailleul Forestier I et al January 2014 The Human Phenotype Ontology project linking molecular biology and disease through phenotype data Nucleic Acids Research 42 Database issue D966 74 doi 10 1093 nar gkt1026 PMC 3965098 PMID 24217912 Robinson PN Kohler S Bauer S Seelow D Horn D Mundlos S November 2008 The Human Phenotype Ontology a tool for annotating and analyzing human hereditary disease American Journal of Human Genetics 83 5 610 5 doi 10 1016 j ajhg 2008 09 017 PMC 2668030 PMID 18950739 Robinson PN Mundlos S June 2010 The human phenotype ontology Clinical Genetics 77 6 525 34 doi 10 1111 j 1399 0004 2010 01436 x PMC 5210535 PMID 20412080 Kohler S Doelken SC Rath A Ayme S Robinson PN September 2012 Ontological phenotype standards for neurogenetics Human Mutation 33 9 1333 9 doi 10 1002 humu 22112 PMID 22573485 External links editHuman Phenotype Ontology Website nbsp This anatomy article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Human Phenotype Ontology amp oldid 1207815896, wikipedia, wiki, book, books, library,
