Human Phenotype Ontology (HPO)

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 HPO aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Terms in the HPO describes a phenotypic abnormality, such as hypotonia.




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.

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