The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease
Abstract
Background
Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize medical procedures, therapies, and interventions.
Methods
MAxO incorporates logical structures that link MAxO terms to numerous other ontologies within the OBO Foundry. Term development involves a blend of manual and semi-automated processes. Additionally, we have generated annotations detailing diagnostic modalities for specific phenotypic abnormalities defined by the Human Phenotype Ontology (HPO). We introduce a web application, POET, that facilitates MAxO annotations for specific medical actions for diseases using the Mondo Disease Ontology.
Findings
MAxO encompasses 1,757 terms spanning a wide range of biomedical domains, from human anatomy and investigations to the chemical and protein entities involved in biological processes. These terms annotate phenotypic features associated with specific disease (using HPO and Mondo). Presently, there are over 16,000 MAxO diagnostic annotations that target HPO terms. Through POET, we have created 413 MAxO annotations specifying treatments for 189 rare diseases.
Conclusions
MAxO offers a computational representation of treatments and other actions taken for the clinical management of patients. Its development is closely coupled to Mondo and HPO, broadening the scope of our computational modeling of diseases and phenotypic features. We invite the community to contribute disease annotations using POET (https://poet.jax.org/). MAxO is available under the open-source CC-BY 4.0 license (https://github.com/monarch-initiative/MAxO).
Keywords
Clinical management; Medical action ontology; Ontology
Bibliographic citation
Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Adam MP, Blau H, et al. The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease. Med. 2023 Dec 8;4(12):913-927.e3.
Audience
Professionals
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https://hdl.handle.net/11351/10811This item appears in following collections
- HVH - Articles científics [3015]
- VHIR - Articles científics [1220]
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