metadata
title: RareDx — Rare Disease Diagnostic AI
emoji: 🧬
colorFrom: blue
colorTo: indigo
sdk: docker
app_port: 8501
pinned: false
short_description: Multi-agent AI for rare disease diagnosis
RareDx — Rare Disease Diagnostic AI
A multi-agent clinical AI system that generates differential diagnoses for rare diseases from plain-text clinical notes.
How It Works
- Symptom Parser — maps free-text symptoms to HPO term IDs using BioLORD-2023 semantic similarity
- Graph Search — traverses the Orphanet/HPO knowledge graph (11,456 diseases, 115,839 phenotype associations)
- Vector Search — BioLORD semantic search over HPO-enriched disease embeddings
- RRF Fusion — merges both rankings via Reciprocal Rank Fusion
- Hallucination Guard — FusionNode filters candidates lacking phenotype evidence
Example
Paste a clinical note like:
"18 year old male, extremely tall, displaced lens in left eye, heart murmur, flexible joints, scoliosis"
The system returns ranked differential diagnoses with evidence scores, matched HPO terms, and an interactive evidence map.
Architecture
| Component | Technology |
|---|---|
| Knowledge graph | Orphanet + HPO (NetworkX JSON) |
| Embeddings | FremyCompany/BioLORD-2023 (768-dim) |
| Vector store | ChromaDB (embedded) |
| API | FastAPI on port 8080 (internal) |
| Dashboard | Streamlit on port 8501 |
Data Sources
- Orphanet — rare disease names, definitions, HPO phenotype associations
- Human Phenotype Ontology — 8,701 standardised phenotype terms
- BioLORD-2023 — biomedical sentence encoder
Startup Note
The pipeline loads the BioLORD model and 11,456-disease knowledge graph on first request. Allow ~30 seconds after the Space starts before submitting a note.