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

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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