Terminology Data - The Human Phenotype Ontology

Supported recent Version

v2024-04-26

Description

The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease.

Each term in the HPO describes a phenotypic abnormality, such as Atrial septal defect (opens new window). The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research.

The HPO is a flagship product of the Monarch Initiative (opens new window), an NIH-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research.

The HPO, as a part of the Monarch Initiative, is a central component of one of the 13 driver projects (opens new window) in the Global Alliance for Genomics and Health (opens new window) (GA4GH) strategic roadmap (opens new window).

Publisher

Human Phenotype Ontology (HPO)

Website

http://www.human-phenotype-ontology.org

Update Cycle

irregularly

Signature

terminology-stable-hpo-data - vv2024-04-26 [build 202406202144]

License

License restrictions apply to all files provided by the HPO project, see: