orphanet

Here are 5 public repositories matching this topic...

demoronator / DiagnosisAssistant

AI Diagnosis Assistant for Diagnosing Rare Diseases

machine-learning big-data pronto artificial-intelligence named-entity-recognition disease diagnosis hpo health-informatics orphanet symptom rare-diseases iubdc

Updated Sep 16, 2023
Python

Phenomics / annotation-simulator

Star

Simulation of disease-phenotype annotation with imprecision and noise.

annotation simulation ontology disease hpo omim orphanet deciper

Updated Jul 27, 2017
Java

erleholgersen / orphanet-parser

Star

Python interface to data from Orphanet.

orphanet rare-disease

Updated Sep 19, 2024
Python

Paulhb7 / orphafold

Star

🧬 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.

orphanet alphafold genai agentic-ai

Updated Feb 9, 2026
TypeScript

nataliyasakh / raremd-assist

Star

AI-powered Rare Genetics Diagnostics Platform - Physician Support - iGEM 2025

orphanet human-phenotype-ontology physician-decision-making rare-diseases

Updated Sep 27, 2025
TypeScript

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orphanet

Here are 5 public repositories matching this topic...

demoronator / DiagnosisAssistant

Phenomics / annotation-simulator

erleholgersen / orphanet-parser

Paulhb7 / orphafold

nataliyasakh / raremd-assist

Improve this page

Add this topic to your repo