AI Diagnosis Assistant for Diagnosing Rare Diseases
Simulation of disease-phenotype annotation with imprecision and noise.
🧬 OrphaFold is an AI-powered platform designed to accelerate research into orphan diseases by combining real-time API enrichment with advanced Multi-Agent orchestration and structural biology.
Evidence-grounded rare disease diagnostic assistant using LangGraph, Neo4j, ChromaDB, biomedical embeddings, PubMed citations, and benchmark-based evaluation.
Generates therapeutic repurposing hypotheses for rare monogenic diseases from open data, running fully locally. Computational research hypotheses, not medical advice.
AI-powered Rare Genetics Diagnostics Platform - Physician Support - iGEM 2025
MCP server for Orphanet (Orphadata): rare-disease nomenclature, gene–disease associations, phenotypes, epidemiology and cross-references, from the Orphadata scientific knowledge files.
To associate your repository with the orphanet topic, visit your repo's landing page and select "manage topics."