PhenoTips is an open source software tool for collecting and analyzing phenotypic information for patients with genetic disorders. The user interface closely mirrors clinician workflows so as to facilitate the recording of observations made during the patient encounter. This easy-to-use front-end, compatible with any device that runs a Web browser, is coupled with with a standardized database back-end where phenotypic information is represented using the Human Phenotype Ontology (HPO).

Collected data include demographics, medical history, family history, physical and laboratory measurements, physical findings, and free-form notes.

In addition to data collection, PhenoTips automatically analyzes a wide range of measurements and plots live the corresponding growth curves. It also supports accurate diagnosis based on the entered data, and can suggest additional clinical investigations that can improve the diagnosis.

Features preview


PhenoTips is developed in the Computational Biology Lab at University of Toronto's Computer Science Department, in collaboration with geneticists and clinicians form SickKids and CARE for RARE.

Citing PhenoTips

If you wish to mention PhenoTips in a scientific article, please refer to our paper published in May 2013 in Human Mutation:

Girdea, M., Dumitriu, S., Fiume, M., Bowdin, S., Boycott, K. M., Chénier, S., Chitayat, D., Faghfoury, H., Meyn, M. S., Ray, P. N., So, J., Stavropoulos, D. J. and Brudno, M. (2013), PhenoTips: Patient Phenotyping Software for Clinical and Research Use. Hum. Mutat., 34: 1057–1065. doi: 10.1002/humu.22347


Jul 09 2014

PhenomeCentral playground available

While PhenomeCentral, the hub for secure data sharing within the rare disorder community built on top of PhenoTips, is still running behind a strong account validation protocol, you can try it out on the new PhenomeCentral playground, now open for registration.

Jun 04 2014

PhenoTips 1.0 Milestone 12r2 released

This is another bugfix release addressing 1 important regression detected in the 1.0 Milestone 12 release.

When using the Quick phenotype search bar to search for and select a term that is already present in the predefined list of phenotypes, that phenotype is not actually selected, even though it appears in the Current selection list. Such a term doesn't contribute to the differential diagnosis or the specificity score, and won't be saved in the patient record. The only way to actually select such phenotypes is by selecting it from the list of predefined symptoms on the left.

May 14 2014

PhenoTips 1.0 Milestone 12r1 released

This is a quick bugfix release addressing 3 regressions detected in the 1.0 Milestone 12 release:

  • The pedigree editor doesn't allow selecting a template anymore
  • The ethnicity fields don't offer suggestions anymore
  • The meaning of the source field in the patient phenotype JSON export changed
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Reproducing or distributing this clinical information without permission from the institution that owns it is strictly forbidden.
PhenoTips version 1.0-milestone-12r2