orphanet

Rare-disease plugin for Mirobody — codes clinical narratives to HPO, reads trio VCF/PED, DICOM and EEG attachments, and ranks Orphanet diagnoses for AI agents.

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.

FoetoLookup — Open-source fetopathology syndrome knowledge base & retrieval pipeline (BioLORD, HPO, RRF convergence matrix)

Python interface to data from Orphanet.

Generates therapeutic repurposing hypotheses for rare monogenic diseases from open data, running fully locally. Computational research hypotheses, not medical advice.

Collected and curated rare disease dataset behind Bridgewell: ontologies, PubMed, ClinicalTrials.gov, NIH RePORTER and patient organisations, every curated row quoted verbatim from its source.

Evidence-grounded rare disease diagnostic assistant using LangGraph, Neo4j, ChromaDB, biomedical embeddings, PubMed citations, and benchmark-based evaluation.

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.