HPO release 1.6.0

The Human Phenotype Ontology (HPO, https://hpo.jax.org), a Monarch Initiative project, is a standardized vocabulary of phenotypic abnormalities associated with over 7500 diseases. HPO is the de facto standard terminology for clinical ‘deep phenotyping’ in humans, providing detailed descriptions of clinical abnormalities and computable disease definitions. It enables non-exact matching of sets of phenotypic features (phenotype profiles) against known diseases, other patients, and research organisms. These algorithms have been used for variant prioritization by the 100,000 Genomes project (https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/), the NIH Undiagnosed Diseases Program/Network (https://commonfund.nih.gov/diseases), and many other clinics, labs, tools, and databases.

HPO can be accessed via a REST API (https://hpo.jax.org/webjars/swagger-ui/3.20.9/index.html?url=/api/hpo/docs/) and via a web application (https://hpo.jax.org/app/). The latest version of the web application (1.6.0, released 2019-Oct-14) introduces new features including the display of frequency, onset, and source for HPO terms associated with a disease.