PhenoTips for Rare Disease

Lifesaving answers at your fingertips.

With deep phenotyping, diagnostic insights, and seamless collaboration, PhenoTips enhances care and diagnosis for even the rarest conditions

up to
30x
faster

for our users to reach Diagnosis.

Book a demo

Join groundbreaking rare disease organizations

Hospital Features

From pre-visit through continuing care.

Designed for rare disease at every stage of the patient journey.

  • Screenshot of deep phenotyping in PhenoTips
Learn More

Save time wasted collecting family history during the first patient encounter. Increase efficiency by up to 50% by sending your patient a survey that auto-draws their pedigree.

Learn More

Never enter the same information twice. Embedded directly into your clinic’s electronic health record, information is shared between patient charts and PhenoTips automatically.

Focus on patient care instead of deciphering clinical notes. Standardized HPO terms are suggested from large chunks of free text for effortless symptom capture.

Forget graphing and interpreting growth curves, PhenoTips instantly creates quantiles from clinical measurements and reports abnormal values as standardized HPO terms.

Effortlessly share de-identified patient data with other PhenoTips instances or PhenomeCentral to find similar cases and work collaboratively with researchers and clinicians around the world.

Plus PhenoTips Core Features.

In addition to our rare disease suite, all Genomic Health Records™ come equipped with the necessities of genomic medicine.

Stockholm-icons / Design / Target Created with Sketch.

Superior pedigree drawing

Over 95% of users agree PhenoTips is the best pedigree drawing software they’ve used.

Stockholm-icons / Shopping / Chart-line#1 Created with Sketch.

Symptom capture that counts

More than simply listing symptoms, your standardized symptoms power your analysis.

Stockholm-icons / Navigation / Double-check Created with Sketch.

Diagnose 30 times faster

Built-in diagnoses suggestions help you reach diagnosis sooner, even for rare diseases.

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

Discover your Genomic Health Record.

Our GHRs are customized to your rare disease needs with additional cross department functionality. Discover your complete genomic solution today.

Book a demo