PhenoTips is a software tool that makes it easy for clinicians and researchers to draw pedigrees and collect structured phenotype data for patients with genetic disorders. Users can then take advantage of a growing ecosystem of tools and services such as term suggestions, differential diagnoses, and patient matchmaking.

Contributor:

The Hospital for Sick Children, the University of Toronto, and Gene42 Inc.

Research Subject:

Health sciences, Deep phenotyping, Genome analysis

Support Email:

support@phenotips.org

Type:

Self deployed

Version:

1.3.6

Release Date (UTC):

2017-11-17

CANARIE Project ID:

Not applicable

Tags:

API deep phenotyping genogram matchmaking ontology patient data pedigree phenotype rare disease

How to Cite:

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