The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

Research output: Preprint/documentation/reportPreprint

Contributors

  • Leigh C Carmody - , The Jackson Laboratory for Genomic Medicine (Author)
  • Michael A Gargano - , The Jackson Laboratory for Genomic Medicine (Author)
  • Sabrina Toro - , University of Colorado Anschutz Medical Campus (Author)
  • Nicole A Vasilevsky - , Critical Path Institute (Author)
  • Margaret P Adam - , Washington University St. Louis (Author)
  • Hannah Blau - , The Jackson Laboratory for Genomic Medicine (Author)
  • Lauren E Chan - , Oregon State University (Author)
  • David Gomez-Andres - , Vall d'Hebron University Hospital (Author)
  • Rita Horvath - , University of Cambridge (Author)
  • Megan L Kraus - , University of Colorado Anschutz Medical Campus (Author)
  • Markus S Ladewig - , Klinikum Saarbrücken (Author)
  • David Lewis-Smith - , Newcastle University (Author)
  • Hanns Lochmüller - , Children's Hospital of Eastern Ontario Research Institute (Author)
  • Nicolas A Matentzoglu - , Semanticly (Author)
  • Monica C Munoz-Torres - , University of Colorado Anschutz Medical Campus (Author)
  • Catharina Schuetz - , Department of Paediatrics, Technische Universität Dresden (Author)
  • Berthold Seitz - , University Hospital of Saarland (Author)
  • Morgan N Similuk - , National Institutes of Health (NIH) (Author)
  • Teresa N Sparks - , University of California at Irvine (Author)
  • Timmy Strauss - , Department of Paediatrics, Technische Universität Dresden (Author)
  • Emilia M Swietlik - , University of Cambridge (Author)
  • Rachel Thompson - , Children's Hospital of Eastern Ontario Research Institute (Author)
  • Xingmin Aaron Zhang - , The Jackson Laboratory for Genomic Medicine (Author)
  • Christopher J Mungall - , Lawrence Berkeley National Laboratory (Author)
  • Melissa A Haendel - , University of Colorado Anschutz Medical Campus (Author)
  • Peter N Robinson - , The Jackson Laboratory for Genomic Medicine (Author)

Abstract

Navigating the vast landscape of clinical literature to find optimal treatments and management strategies can be a challenging task, especially for rare diseases. To address this task, we introduce the Medical Action Ontology (MAxO), the first ontology specifically designed to organize medical procedures, therapies, and interventions in a structured way. Currently, MAxO contains 1757 medical action terms added through a combination of manual and semi-automated processes. MAxO was developed with logical structures that make it compatible with several other ontologies within the Open Biological and Biomedical Ontologies (OBO) Foundry. These cover a wide range of biomedical domains, from human anatomy and investigations to the chemical and protein entities involved in biological processes. We have created a database of over 16000 annotations that describe diagnostic modalities for specific phenotypic abnormalities as defined by the Human Phenotype Ontology (HPO). Additionally, 413 annotations are provided for medical actions for 189 rare diseases. We have developed a web application called POET (https://poet.jax.org/) for the community to use to contribute MAxO annotations. MAxO provides a computational representation of treatments and other actions taken for the clinical management of patients. The development of MAxO is closely coupled to the Mondo Disease Ontology (Mondo) and the Human Phenotype Ontology (HPO) and expands the scope of our computational modeling of diseases and phenotypic features to include diagnostics and therapeutic actions. MAxO is available under the open-source CC-BY 4.0 license (https://github.com/monarch-initiative/MAxO).

Details

Original languageEnglish
Number of pages20
Publication statusPublished - 13 Jul 2023
No renderer: customAssociatesEventsRenderPortal,dk.atira.pure.api.shared.model.researchoutput.WorkingPaper

External IDs

PubMedCentral PMC10370244
ORCID /0009-0003-6519-0482/work/146644428
medrxiv 10.1101/2023.07.13.23292612_v1
unpaywall 10.1101/2023.07.13.23292612

Keywords

Sustainable Development Goals