PhenoTips software for medical genetics is complete with a pedigree tool for pedigree analysis, Human Phenotype Ontology and OMIM database capture, and more, serving cancer genetics, rare disease, pediatrics and other specialities.

A complete solution for medical genetics.

PhenoTips is the most user-friendly and EMR-integrated software solution for medical genetics, complete with pedigree charts, Human Phenotype Ontology capture, diagnostic insights for rare diseases and more.

Join leading institutions preparing for the future of genetics with PhenoTips

There’s a lot of different pedigree drawing programs out there. I’ve found them clunky and not very useful. But with PhenoTips I’ve never had any problems - it just works. You don’t want to think about the IT behind it, you just want something that works.

Dr. Marc Tischkowitz, Consultant Clinical Geneticist, Addenbrooke's Hosptial, Cambridge University Hospitals

PhenoTips allows us to click a button and save anywhere from 15 to 30 minutes in extra work.

Scott Weissman, MS, Cancer Service Lead Genetic Counselor, Genome Medical, San Francisco, CA, USA

PhenoTips has made the most impact in the phenotyping space. The tool allows symptoms to be collected in a standardized way, which enables case matching and downstream analysis. PhenoTips software is used on a daily basis by UDN clinicians and researchers.

Kimberly LeBlanc, Associate Director of Research Operations, Undiagnosed Diseases Network, Boston, MA, USA

32 years and 180+ visits to my GP without a diagnosis. PhenoTips would now suggest a differential by the sixth visit.

Ian Stedman, Postdoctoral Fellow Researching in Artificial Intelligence Law and Ethics, Hospital for Sick Children

In terms of collaboration, PhenoTips has made it much better than what we had before! It’s easier to know which cases are complete and much easier for us to go back to a case and know where it is in the process. Before, we had to ask others on the team questions like “When are we going to get results?”, “Are you analyzing this case?”

Anne-Marie Laberge, MD, MPH, PhD, Researcher, CHU Sainte-Justine Research Center,Associate Clinical Professor of Medical Genetics & Paediatrics, Université de Montréal

Phenotips has become an indispensable asset to our research team. We are now able to securely store data including medical history, genetic test results, and family histories all in one location outside of the EMR. This has improved our genomic analysts’ ability to locate necessary data to inform results interpretation. In addition, the ease of use has prompted our clinical Genetics team to adopt the pedigree tool for daily utilization.

Lauren Bartik, Genetic Counselor, Children’s Mercy Hospitals
Core Features

From pedigree charts, to phenotype capture, to managing the results of whole genome sequencing

PhenoTips digitizes more aspects of medical genetics with a single solution that integrates with any EMR software, making your work simple, efficient and patient-focused.

Pedigree Software

Create pedigree charts effortlessly.

Import, export, collaborate, edit, draw and even automate your patient's pedigree chart.

over
95%
of users

agree PhenoTips is the best pedigree drawing software they have used.

A GIF showing the PhenoTips pedigree tool in the process of drawing a pedigree chart for a patient Laptop computer
Human Phenotype Ontology Capture

Capture human phenotypes with ease.

Leveraging the Human Phenotype Ontology (HPO), you can easily capture high-quality clinical symptoms to power your analysis.

almost
90%
of users

use PhenoTips in their daily practice.

A GIF showing a PhenoTips user capturing Human Phenotype Ontology coded human phenotypes and creating a phenotypic profile for their patient.
Gene & Diagnosis Suggestions

Diagnose with confidence.

Guide diagnosis with phenotype-based gene matching and disease suggestions. Or, use a simple search to record coded rare diseases leveraging Orphanet.

up to
30x
faster

for our users to reach Diagnosis.

A GIF showing a PhenoTips user browsing the gene suggestions based on the human phenotype ontology coded phenotypic profile of their patient. Laptop computer

Phenotips has software solutions for cancer genetics, pediatrics, and other specialities

View More Features

Join the movement.

PhenoTips is trusted by leading institutions around the world.

240,000+

Patient records

5,000+

Specialists

60+

Countries

Discover the medical genetics solution for you.

No matter where you fit in medical genetics, we have a complete software solution for you.

Simplify your workflow today.

Stop wasting time on redundant data re-entry, simplify your workflow to focus on delivering high-quality patient care.

Book a demo