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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 is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains approximately 11,000 terms and over 115,000 annotations to hereditary diseases. All data is available for download or can be browsed online (please see this publication first)
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 UBERON, GO, ChEBI, 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.
For legal issues regarding usage of HPO please see here.
Suggestions and Corrections
Suggestions about HPO terms, definitions, or annotations can be sent to the HPO tracker on github
Follow HPO on twitter.