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Diagnosis Safe Moderate Evidence
Orphanet get phenotypes
by Harvard MIMS Lab (ToolUniverse)
Description
Get HPO (Human Phenotype Ontology) phenotypes associated with a rare disease from Orphanet. Returns HPO terms with their frequency (Very frequent, Frequent, Occasional, Very rare, Excluded) and whether they are diagnostic criteria. Essential for phenotype-driven rare disease diagnosis.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse orphanet rare-disease genetic-disorders