Human Phenotype Ontology

Nature Genetics Paper on layperson vocabulary

Nature Genetics Paper on layperson vocabulary

In clinical settings, phenotypic abnormalities are often defined using specialized medical terminology, which can be difficult for patients to understand. This so-called terminology-gap can impede participation of patients and families in research projects concerned with the phenotype or natural history of diseases, and can even make it difficult for patients to understand data from their own medical charts.

The HPO Project and the Monarch Initiative have therefore “translated” the terms of the HPO into “plain language”. For instance, the term for Macrocephaly can be translated as Large skull.

This joint project with the Monarch-Initiative, HPO, PCORI, Sanford Medical, and a lot of other contributors on adding layperson synonyms to HPO has now been published in Nature Genetics.