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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.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse hpo phenotype rare-disease