🧬 SymptomSavvy: Smarter Rare Disease Discovery

Harvard Rare Disease Hackathon 2025 Submission – Problem Statement A

SymptomSavvy is a web application built to accelerate and enhance the diagnosis process for rare diseases—a journey that often takes patients years. Our platform uses an iterative Phrank algorithm integrated with the Human Phenotype Ontology (HPO) to intelligently match symptom inputs to a comprehensive database of rare diseases.

🩺 Guiding Patients & Providers

By inputting symptoms, users receive a ranked list of potential rare disease matches, helping both patients and healthcare providers narrow down possibilities more quickly and efficiently.

📚 From Symptoms to Solutions

Each match is paired with links to relevant medical literature and local specialists, turning the diagnostic process into an actionable next step rather than a dead end.

🔍 Ontology-Powered Precision

Leveraging the HPO ensures that our symptom analysis isn't just keyword matching—it reflects structured, clinically meaningful relationships between diseases and their phenotypes.

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