The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Cardio Online Reader – An Easy Way to Obtain Valid Scientific Articles in Cardiology

Searching for the clinical valid information in the large bibliographic database can be time consuming and hard work. We designed an easy-to-use web service Cardio Online Reader (COR) specialized on the topic of Cardiology. As a source we use the PubMed database adding simple filter and social functions for sharing the content

The use classification and nomenclature systems in the Catalogue of clinical guidelines

The paper describes the catalog of clinical guidelines, which collects detailed information about current clinical guideline documents in the Czech Republic. It uses classification systems and nomenclature for sorting and searching for relevant documents and also for future easy integration with electronic health record in the related decision support system

Implementation of medical guidelines in an electronic form

Medical guidelines are an important tool for clinical decision-making not only for physicians, but also on a wider scale tool for increasing the efficiency of medical care. Currently, there are tools for creating electronic forms of medical guidelines and their use in clinical practice but their expansion is hampered by the absence of a concept for their collective use and by limited use of electronic health record

Klinické klasifikace a jejich použití v českém zdravotnictví

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Rozhovor s Pavlou Horskou

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