Medical disclaimer
UniteRare Diagnosis Assist is a research and educational tool. It does not provide medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider for medical decisions. Results are ranked possibilities, not confirmed diagnoses.
Our 5-pathway diagnostic approach
Multiple AI systems working in parallel to give you the most accurate results
HPO Phenotype Matching
Maps your symptoms to standardized Human Phenotype Ontology terms and computes similarity scores against 11,000+ diseases using semantic algorithms.
Multi-Model AI Ranking
Claude Opus analyzes your full symptom narrative and patient history to rank differential diagnoses with supporting evidence.
LIRICAL Statistical Analysis
Bayesian posterior probability scoring using published HPO disease frequencies. Each match has a likelihood ratio score.
OMIM Cross-Reference
Automatically cross-references genetic disease databases including OMIM, Orphanet, and ClinVar for variant associations.
RRF Fusion Ranking
Reciprocal Rank Fusion combines all pathway scores into a final consensus ranking — the same approach validated in our benchmark study.
How accuracy scales with your symptom details
The more symptoms you describe, the better the tool can narrow down which rare disease may fit. These are conservative estimates from our validation benchmarks:
"Accuracy" = the correct disease was our top-ranked suggestion. Real-world accuracy depends on how clearly symptoms are described. Our tool coaches you to enter enough symptoms to reach high confidence before you act on results. Always confirm any diagnosis with a qualified clinician.
Ready to analyze your symptoms?
Create a free account to access Diagnosis Assist and all modules.