Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

Human Phenotype Ontology

Human Phenotype Ontology

The Human Phenotype Ontology (HPO) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. As an ontology, HPO enables computational inference and sophisticated algorithms that support combined genomic and phenotypic analyses. Broad clinical, translational and research applications using the HPO include genomic interpretation for diagnostics, gene-disease discovery, mechanism discovery and cohort analytics, all of which assist in realizing precision medicine.

Pyrophen

Pyrophen generates a FHIR Code system representing the Human Phenotype Ontology. Please see the documentation for details. The code system can be used by the current IG.