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Diagnosis Safe Moderate Evidence
Orphanet get gene diseases
by Harvard MIMS Lab (ToolUniverse)
Description
Get rare diseases associated with a gene from Orphanet. Accepts gene symbols (e.g., 'FBN1', 'BRCA1', 'HTT') or gene name keywords (e.g., 'fibrillin', 'huntingtin', 'dystrophin'). Gene symbols are auto-resolved to full names. Returns disease ORPHA codes, gene symbols, association types, and genomic locus information.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse orphanet rare-disease genetic-disorders