PhenoTips

PhenoTips

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

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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 company that provides commercial support and development for 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.

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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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