Human Phenotype Ontology (HPO)
The Human Phenotype Ontology (HPO) is a structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease.
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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
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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- Stars
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- Contributors
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- Last Commit
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- OBO Dashboard
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