An ontology is a computational representation of a domain of knowledgebased 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. Terms in the HPO describes a phenotypic abnormality, such as atrial septal defect.
The HPO was initially developed using information from Online Mendelian Inheritance in Man (OMIM)
, which is a hugely important data resource in the field of human genetics and beyond. The HPO is currently being developed using information from OMIM and the medical literature and contains approximately 10,000 terms. Over 50,000 annotations to hereditary diseases are available for download or can be browsed using the PhenExplorer
The HPO is now being developed in collaboration with members of the OBO Foundry
(Open Biological and Biomedical Ontologies), and logical definitions for HPO terms are being developed using PATO
and a number of other ontologies including the FMA
, and MPATH
. The HPO can be used for clinical diagnostics in human genetics (Phenomizer
), bioinformatics research on the relationships between human phenotypic abnormalities and cellular and biochemical networks, for mapping between human and model organism phenotypes, and for providing a standardized vocabulary for clinical databases, among many other things. There exists a webpage for every HPO-term
The HPO project encourages input from the medical and genetics community with regards to the ontology itself and to clinical annotations.
Model organisms are a cornerstone of biomedical research to investigate
biological processes, test gene-based disease hypotheses, and develop
and test disease treatments. The HPO team is a member of the Monarch Initiative, which is developing computational and semantic resources and software to allow cross-species phenotype analysis, and to integrate information from multiple organisms including phenotypic
similarity, network analysis, gene expression and function, and
genomics. One such tool for using phenotypic similarity between human disease and mouse models of disease is the Exomiser.
PhenoTips is an open source software tool for collecting and
analyzing phenotypic information for patients with genetic disorders.
Phenotips was developed by the group of Michael Brudno at the University
of Toronto with input from the HPO team, the Monarach
initiative, and the NIH Undiagnosed Diseases Program, and allows
phenotypic features of patients to be encoded using HPO terms, but also
allows clinicians or researchers to collect information on demographics,
medical history, family history, physical and
laboratory measurements, physical findings, and free-form notes.
Suggestions and Corrections
Suggestions about HPO terms, definitions, or annotations can be sent to the HPO tracker.