Working Paper Concept Paper Version 1 This version is not peer-reviewed

The Hearing Impairment Ontology: A tool for unifying hearing impairment knowledge to enhance collaborative research

Version 1 : Received: 18 September 2019 / Approved: 19 September 2019 / Online: 19 September 2019 (11:37:08 CEST)

How to cite: Hotchkiss, J.; Manyisa, N.; Mawuli Adadey, S.; Oluwole, O.; Wonkam, E.; Mnika, K.; Yalcouye, A.; Nembaware, V.; Haendel, M.; Vasilevsky, N.; Mulder, N.; Jupp, S.; Wonkam, A.; Kuzamunu Mazandu, G. The Hearing Impairment Ontology: A tool for unifying hearing impairment knowledge to enhance collaborative research. Preprints 2019, 2019090224 Hotchkiss, J.; Manyisa, N.; Mawuli Adadey, S.; Oluwole, O.; Wonkam, E.; Mnika, K.; Yalcouye, A.; Nembaware, V.; Haendel, M.; Vasilevsky, N.; Mulder, N.; Jupp, S.; Wonkam, A.; Kuzamunu Mazandu, G. The Hearing Impairment Ontology: A tool for unifying hearing impairment knowledge to enhance collaborative research. Preprints 2019, 2019090224

Abstract

Hearing impairment (HI) is a common sensory disorder that is defined as the partial or complete inability to detect sound in one or both ears. This diverse pathology is associated with a myriad of phenotypic expressions and/or syndromes. HI can be caused by various intrinsic, environmental and/or unknown factors. Some ontologies capture some relevant HI forms, phenotypes and syndromes, but there is no comprehensive knowledge portal which includes aspects specific to the HI disease state. This hampers inter-study comparability, integration and interoperability within and across disciplines. This work describes the HI Ontology (HIO) that was developed based on the Sickle Cell Disease Ontology (SCDO) model. This is a collaboratively developed resource built around the 'Hearing Impairment' concept by a group of experts in different aspects of HI and ontologies. HIO is the first comprehensive, standardized, hierarchical and logical representation of existing HI knowledge. HIO allows researchers and clinicians alike to readily access standardized HI-related knowledge in a single location and promote collaborations and HI information sharing, including epidemiological, socio-environmental, biomedical, genetic and phenotypic information. Furthermore, this ontology illustrates the adaptability of the SCDO framework for use in developing a disease-specific ontology.

Subject Areas

hearing impairment; hearing loss; ontology; data harmonization; meta-analysis

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