129. Standardization of cancer terminology in the Mondo Disease Ontology

Abstract

Biomedical ontologies provide a standard computable representation of knowledge that can be used to integrate and navigate large amounts of heterogeneous data for downstream computational analysis and knowledge discovery. The Mondo Disease Ontology (Mondo) is a semantic resource that integrates several existing disease terminologies, provides precise, curated semantic mappings between them, and unifies them into one coherent classification of diseases. Cancer concepts in Mondo are formally classified into a hierarchical representation, which can be used to annotate data at different levels of granularity. Neoplasm is the top-level class and subtypes (subclasses) are largely aligned with the NCIt neoplasm branch, with malignant neoplasms (cancers) being classified as subtypes. Classes are grouped in multiple ways, such as by anatomical entities affected (such as cardiovascular or digestive system neoplasms), by malignancy (benign, pre-malignant, or malignant, or onset (childhood neoplasm). In addition, Mondo has representations of susceptibilities to cancers and hereditary neoplastic syndromes such as Lynch Syndrome and Li-Fraumeni syndrome. Mondo provides mappings to other disease resources such as the National Cancer Institute Thesaurus (NCIt), as well as cancer terminology from Orphanet, OMIM, Disease Ontology, and others. Mondo precisely annotates each mapping using strict semantics, so that we know when two diseases are precisely equivalent or merely closely related. Mondo is iteratively developed and revised and we invite the community to contribute to Mondo; visit github.com/monarch-initiative/mondo for details.