PhenoTips™ is a software tool for collecting and analyzing phenotypic information for patients with genetic disorders.

  • Free and open source
  • Web-based application
  • Easy to customize
  • Standardized phenotyping using the Human Phenotype Ontology (HPO)
  • Error-tolerant, predictive search of the ontology
  • Real-time evaluation of the informational value of the phenotypic description via the Monarch Phenotype Profile Analysis
  • Powerful built-in pedigree editor
  • Measurements and growth curves
  • Diagnosis assistance based on the entered data


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