Identifying Missing Is-A Relations In Orphanet Rare Disease Ontology

Authors

Language

English

Publication Date

12-1-2022

Journal

2022 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)

DOI

10.1109/bibm55620.2022.9995614

PMID

36776767

PMCID

PMC9918376

PubMedCentral® Posted Date

February 2023

PubMedCentral® Full Text Version

Author MSS

Abstract

The Orphanet Rare Disease Ontology (ORDO) provides a structured vocabulary encapsulating rare diseases. Downstream applications of ORDO depend on its accuracy to effectively perform their tasks. In this paper, we implement an automated quality assurance pipeline to identify missing is-a relations in ORDO. We first obtain lexical features from concept names. Then we generate related and unrelated feature sharing concept-pairs, where a feature sharing concept-pair can further generate derived term-pairs. If an unrelated and related feature sharing concept-pair generate the same derived term-pair, then we suggest a potential missing is-a relation between the unrelated feature sharing concept-pair. Applying this approach on the 2022-06-27 release of ORDO, we obtained 705 potential missing is-a relations. Leveraging external ontological information in the Unified Medical Language System, we validated 164 missing is-a relations. This indicates that our approach is a promising way to audit is-a relations in ORDO, even though further domain expert evaluation is still needed to validate the remaining potential missing is-a relations identified.

Keywords

Rare diseases, Orphanet, Orphanet rare disease ontology, ontology quality assurance

Published Open-Access

yes

Recommended Citation

, "Identifying Missing Is-A Relations In Orphanet Rare Disease Ontology" (2022). Faculty, Staff and Student Publications. 138.
https://digitalcommons.library.tmc.edu/uthshis_docs/138