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Diagnosis Safe Moderate Evidence

HPO get term

by Harvard MIMS Lab (ToolUniverse)

Description

Get detailed information about a Human Phenotype Ontology (HPO) term by its ID. HPO provides standardized descriptions of phenotypic abnormalities in human disease with over 18,000 terms. Returns the term name, definition, synonyms, cross-references to UMLS/SNOMED, descendant count, and translations. Example: HP:0001250 (Seizure) returns definition, 346 descendants, synonyms including 'Epileptic seizure' and 'Epilepsy', and cross-references to UMLS and SNOMED-CT.

Quick Install

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Installation

pip install tooluniverse

Status

Published

Reviewer

Automated import

Date Added

2026-03-30

Tags

tooluniverse hpo phenotype rare-disease