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

Publication date: Jul 12, 2023

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).

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Concepts	Keywords
Medicinefarmingtonctunited	Action
Migraine	Actions
Ontario	Annotations
Tucson	Clinical
	Diagnostic
	Diseases
	Hpo
	Https
	Maxo
	Medrxiv
	Ontology
	Org
	Preprint
	Rare
	Treatment

Semantics

Type	Source	Name
disease	MESH	rare diseases
disease	MESH	abnormalities
drug	DRUGBANK	Coenzyme M
disease	MESH	Allergy
drug	DRUGBANK	Ubidecarenone
disease	MESH	epilepsy
drug	DRUGBANK	Acetylsalicylic acid
drug	DRUGBANK	Acetaminophen
disease	MESH	migraine
disease	MESH	Marfan syndrome
disease	MESH	intracranial hypotension
disease	MESH	ectasia
disease	MESH	infarcts
disease	MESH	leukoencephalopathy
disease	MESH	CADASIL
disease	MESH	ornithine transcarbamylase deficiency
drug	DRUGBANK	Ammonia
disease	MESH	etiology
drug	DRUGBANK	Folic Acid
disease	MESH	Anemia
disease	MESH	Ehlers Danlos Syndrome
disease	MESH	complications
disease	MESH	obesity
disease	MESH	dehydration
disease	MESH	Carnitine Acylcarnitine Translocase Deficiency
disease	MESH	Nijmegen Breakage Syndrome
drug	DRUGBANK	L-Glutamine
disease	MESH	coenzyme Q10 deficiency
disease	MESH	G6PD deficiency
disease	MESH	lens dislocation
drug	DRUGBANK	Serotonin
drug	DRUGBANK	Norepinephrine
drug	DRUGBANK	Fluoxetine
disease	MESH	congenital myasthenic syndrome
disease	MESH	Von Hippel Lindau syndrome
disease	MESH	hemangioblastoma
drug	DRUGBANK	Pyridoxine
drug	DRUGBANK	Pyridoxamine
drug	DRUGBANK	Phosphate ion
disease	MESH	myotonic dystrophy
disease	MESH	cystic fibrosis
disease	MESH	inborn errors metabolism
disease	MESH	genetic diseases
disease	MESH	cancer
drug	DRUGBANK	Guanosine
disease	MESH	refractory epilepsy
disease	MESH	undiagnosed disease