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

人类表型本体论 (羟基磷灰石) 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
发现, and cohort analytics. In recent years, groups around the world
have developed translations of the HPO from English to other languages, 和
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. 自我们上次报告以来, a total of 2239 new HPO terms
和 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. 最后, 这
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.