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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:

Publications

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

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

ID Space: hp
PURL: http://purl.obolibrary.org/obo/hp.owl
License: hpo
Homepage: http://www.human-phenotype-ontology.org/
Contact: Sebastian Koehler; 0000-0002-5316-1399; @drseb
Repository: https://github.com/obophenotype/human-phenotype-ontology
Tracker: https://github.com/obophenotype/human-phenotype-ontology/issues/
Domain: phenotype
Mailing List: https://groups.io/g/human-phenotype-ontology
Taxon: Homo sapiens
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