Human Phenotype Ontology
A structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease.
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:
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
- Trackers
- https://github.com/obophenotype/human-phenotype-ontology/issues/
- Domain
- phenotype
- Mail List
- https://groups.io/g/human-phenotype-ontology
- Taxon
- Homo sapiens
- Cite
- 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.
- Jobs
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