ArticleMed (New York, N.Y.)2023
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.
Article in Med (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Translating multi-omics into healthcare: requisites for scalable and equitable implementation.Human genomics · 2026Review
- Anatomy-Guided Hybrid CNN-ViT Model with Neuro-Symbolic Reasoning for Early Diagnosis of Thoracic Diseases Multilabel.Diagnostics (Basel, Switzerland) · 2026Article
- Rendering knowledge graphs from aerospace dentistry processes for clinical decision support systems.Acta astronautica · 2026Article
- Leveraging generative AI to assist biocuration of medical actions for rare disease.Bioinformatics advances · 2025Article
- Current best practices and future opportunities for reproducible findings using large-scale neuroimaging in psychiatry.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Review
- Expanding the Ontology of Organizational Structures of Trauma Centers and Trauma Systems.CEUR workshop proceedings · 2024Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
Corrections and comments
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Authors and funding
26 authors at 16 institutions in 5 countries.
Funding
Abstract
backgroundNavigating 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.
methodsMAxO 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.
findingsMAxO 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.
conclusionsMAxO 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).
fundingNHGRI 1U24HG011449-01A1 and NHGRI 5RM1HG010860-04.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.