title: PhenoTips: patient phenotyping software for clinical and research use.
abstract: We have developed PhenoTips: open source software for collecting and analyzing phenotypic information for patients with genetic disorders. Our software combines an easy-to-use interface, compatible with any device that runs a Web browser, with a standardized database back end. The PhenoTips' user interface closely mirrors clinician workflows so as to facilitate the recording of observations made during the patient encounter. Collected data include demographics, medical history, family history, physical and laboratory measurements, physical findings, and additional notes. Phenotypic information is represented using the Human Phenotype Ontology; however, the complexity of the ontology is hidden behind a user interface, which combines simple selection of common phenotypes with error-tolerant, predictive search of the entire ontology. PhenoTips supports accurate diagnosis by analyzing the entered data, then suggesting additional clinical investigations and providing Online Mendelian Inheritance in Man (OMIM) links to likely disorders. By collecting, classifying, and analyzing phenotypic information during the patient encounter, PhenoTips allows for streamlining of clinic workflow, efficient data entry, improved diagnosis, standardization of collected patient phenotypes, and sharing of anonymized patient phenotype data for the study of rare disorders. Our source code and a demo version of PhenoTips are available at http://phenotips.org.
authors: Department of Computer Science, University of Toronto, Ontario, Canada.
authors: Marta
authors: M
authors: Girdea
authors: Sergiu
authors: S
authors: Dumitriu
authors: Marc
authors: M
authors: Fiume
authors: Sarah
authors: S
authors: Bowdin
authors: Kym M
authors: KM
authors: Boycott
authors: Sébastien
authors: S
authors: Chénier
authors: David
authors: D
authors: Chitayat
authors: Hanna
authors: H
authors: Faghfoury
authors: M Stephen
authors: MS
authors: Meyn
authors: Peter N
authors: PN
authors: Ray
authors: Joyce
authors: J
authors: So
authors: Dimitri J
authors: DJ
authors: Stavropoulos
authors: Michael
authors: M
authors: Brudno
mesh_terms: D000465:Algorithms; D002648:Child; D003628:Database Management Systems; D016208:Databases, Factual; D030541:Databases, Genetic; D063990:Gene Ontology; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D036281:Genetic Research; D006801:Humans; D016247:Information Storage and Retrieval; D010641:Phenotype; D012984:Software; D014584:User-Computer Interface
keywords: clinical genetics; data standardization; ontologies; phenotype