The Human Phenotype Ontology


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. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains over 18,000 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, 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 in the Global Alliance for Genomics and Health (GA4GH) strategic roadmap.

News & Updates


Exomiser

Evaluate variants based on the predicted pathogenicity.

chevron_right

Phenomizer

Rank disease differential diagnosis by clinical features.

chevron_right

Genomiser

Analyze genome sequence data for non-coding variants.

chevron_right

Profile Search

Discover diseases with a phenotype profile.

chevron_right


Phenopackets

A Global Alliance for Genomics and Health (GA4GH) international standard for phenotypic data exchange.


2.0.4