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Human Phenotype Ontology

Human Phenotype Ontology

Research Partner

In 2022, the Monarch Initiative signed a five-year collaboration agreement with SNOMED International to develop maps from the clinical terminology SNOMED CT to Human Phenotype Ontology (HPO), a standardized vocabulary of phenotypic abnormalities encountered in human disease, and to HPO from SNOMED CT.

Additional information

HPO is a flagship product of the Monarch Initiative, a US National Institutes of Health-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research, and an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. It is also a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health strategic roadmap.

As part of the agreement, the organizations will work together to develop mapping conventions by which both maps will be created, along with use cases. Both organizations will also collaborate on quality assurance, promoting the maps to their respective stakeholders and defining and agreeing upon an ongoing maintenance and updating process and policy for the developed maps.

Press Release:

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