PhenoTips

PhenoTips

PhenoTips® is a software tool for collecting and analyzing phenotypic information of 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

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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

 

We are proud to collaborate with

Gene42 Inc.

Gene42 Inc.

Gene42 is the commercial side of PhenoTips®, working with institutional users to perform enterprise-quality deployments and custom feature development.

Aiming to make PhenoTips® viable for mass use in clinical settings, Gene42 handles the challenges surrounding privacy, reliability, security, and stability. Gene42's tailor-made solutions streamline PhenoTips® according to individual clinical practices.

Find out more...

The Human Phenotype Ontology

The Human Phenotype Ontology

PhenoTips® enables the collection of phenotype data using the Human Phenotype Ontology (HPO), a standardized vocabulary of phenotypic abnormalities encountered in human disease.

Thanks to the detailed terminology and semantic organization of the HPO, PhenoTips® users can specify precise and detailed phenotypic profiles in a standardized format.

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The Monarch Initiative

The Monarch Initiative

The Monarch Initiative builds and maintains a curated knowledge base that links genotype-phenotype associations across a large number of species (including humans).

The infrastructure and algorithms developed by the Monarch Initiative provide the foundation for PhenoTips® data analysis features such as diagnosis suggestions, suggestions of additional phenotypes to investigate, and phenotypic profile specificity evaluation.

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Availability

PhenoTips® is freely available under the terms of the the GNU Affero General Public License, version 3.0.

 Download the latest release
 Play with our demo
 Get the source code

Contact

 Ask for free support (by volunteers):
support@phenotips.org
 Inquire about commercial support:
info@gene42.com
 Follow us on twitter:
@phenotips

PhenoTips® is an exclusive trademark of Gene42 Inc.