logo Human Phenotype Ontology

A structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease.

OntoBee AberOWL OLS HPO Monarch Bioregistry

An ontology is a computational representation of a domain of knowledge based upon a controlled, standardized vocabulary for describing entities and the semantic relationships between them.

The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM.

The HPO can be browsed using:

Products
hp.json Official HPO release in obographs JSON format Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in obographs JSON format.
hp.obo Official HPO release in OBO format Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in OBO file format.
hp.owl Official HPO release in OWL Manually classified version of the ontology without the use of a reasoner, with imported terms, in OWL format (RDF/XML).
hp/hp-base.json HPO base release in obographs JSON format Manually curated version of the ontology without the use of a reasoner, with references to imported terms, in obographs JSON file format.
hp/hp-base.obo HPO base release in OBO format Manually curated version of the ontology without the use of a reasoner, with references to imported terms, in OBO file format.
hp/hp-base.owl HPO base release in OWL format Manually curated version of the ontology without the use of a reasoner, with references to imported terms, in OWL (RDF/XML) file format.
hp/hp-full.json HPO full release in obographs JSON format Version of the ontology automatically classified with the use of a reasoner, including all imported terms, in obographs JSON file format.
hp/hp-full.obo HPO full release in OBO format Version of the ontology automatically classified with the use of a reasoner, including all imported terms, in OBO file format.
hp/hp-full.owl HPO full release in OWL format Version of the ontology automatically classified with the use of a reasoner, including all imported terms, in OWL (RDF/XML) file format.
hp/hp-international.json HPO International Edition in obographs JSON format Version of the ontology corresponding to the primary release (hp.owl), with translated labels, synonyms, and definitions, in obographs JSON file format.
hp/hp-international.obo HPO International Edition in OBO format Version of the ontology corresponding to the primary release (hp.owl), with translated labels, synonyms, and definitions, in OBO file format.
hp/hp-international.owl HPO International Edition in OWL format Version of the ontology corresponding to the primary release (hp.owl), with translated labels, synonyms, and definitions, in OWL (RDF/XML) file format.
hp/hp-simple-non-classified.json HPO simple, manually classified, without imports in obographs JSON format Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in obographs JSON file format.
hp/hp-simple-non-classified.obo HPO simple, manually classified, without imports in OBO format Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in OBO file format.
hp/hp-simple-non-classified.owl HPO simple, manually classified, without imports in OWL format Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in OWL (RDF/XML) file format.
hp/phenotype.hpoa HPO Annotations (Phenotype to Disease) https://hpo.jax.org/app/data/annotations
hp/phenotype_to_genes.txt HPO phenotype to gene annotations https://hpo.jax.org/app/data/annotations
hp/genes_to_phenotype.txt HPO gene to phenotype annotations https://hpo.jax.org/app/data/annotations
Usages
User
https://monarchinitiative.org/
Description
HPO is used by the Monarch Initiative for phenotype annotations.
Type
annotation
Examples