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layout id title browsers contact depicted_by description domain homepage license mailing_list preferredPrefix products publications repository taxon tracker twitter usages activity_status
ontology_detail
hp
Human Phenotype Ontology
title label url
JAX HPO Browser
HPO
title label url
Monarch Phenotype Page
Monarch
email github label orcid
drseb
Sebastian Koehler
0000-0002-5316-1399
A structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease.
phenotype
HP
id title derived_from description format
hp.json
Official HPO release in obographs JSON format
hp/hp-simple-non-classified.owl
Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in obographs JSON format.
json
id title derived_from description format
hp.obo
Official HPO release in OBO format
hp/hp-simple-non-classified.owl
Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in OBO file format.
obo
id title description 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).
owl
id title derived_from description format
hp/hp-base.json
HPO base release in obographs JSON format
hp/hp-base.owl
Manually curated version of the ontology without the use of a reasoner, with references to imported terms, in obographs JSON file format.
obo
id title derived_from description format
hp/hp-base.obo
HPO base release in OBO format
hp/hp-base.owl
Manually curated version of the ontology without the use of a reasoner, with references to imported terms, in OBO file format.
obo
id title description 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.
owl
id title derived_from description format
hp/hp-full.json
HPO full release in obographs JSON format
hp/hp-full.owl
Version of the ontology automatically classified with the use of a reasoner, including all imported terms, in obographs JSON file format.
json
id title derived_from description format
hp/hp-full.obo
HPO full release in OBO format
hp/hp-full.owl
Version of the ontology automatically classified with the use of a reasoner, including all imported terms, in OBO file format.
obo
id title description 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.
owl
id title derived_from description format
hp/hp-international.json
HPO International Edition in obographs JSON format
hp/hp-international.owl
Version of the ontology corresponding to the primary release (hp.owl), with translated labels, synonyms, and definitions, in obographs JSON file format.
json
id title derived_from description format
hp/hp-international.obo
HPO International Edition in OBO format
hp/hp-international.owl
Version of the ontology corresponding to the primary release (hp.owl), with translated labels, synonyms, and definitions, in OBO file format.
obo
id title description 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.
owl
id title derived_from description format
hp/hp-simple-non-classified.json
HPO simple, manually classified, without imports in obographs JSON format
hp/hp-simple-non-classified.owl
Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in obographs JSON file format.
json
id title derived_from description format
hp/hp-simple-non-classified.obo
HPO simple, manually classified, without imports in OBO format
hp/hp-simple-non-classified.owl
Simple, manually curated version of the ontology without the use of a reasoner, and without any imported terms, in OBO file format.
obo
id title description 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.
owl
id title description format
hp/phenotype.hpoa
HPO Annotations (Phenotype to Disease)
tsv
id title description format
hp/phenotype_to_genes.txt
HPO phenotype to gene annotations
tsv
id title description format
hp/genes_to_phenotype.txt
HPO gene to phenotype annotations
tsv
id title
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
id title
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
id title
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
id title
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
id label
NCBITaxon:9606
Homo sapiens
hp_ontology
description examples reference type user
HPO is used by the Monarch Initiative for phenotype annotations.
annotation
active

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: