Hotchkiss, J.; Manyisa, N.; Adadey, S.M.; Oluwole, O.G.; Wonkam, E.; Mnika, K.; Yalcouye, A.; Nembaware, V.; Haendel, M.; Vasilevsky, N.; Mulder, N.J.; Jupp, S.; Wonkam, A.; Mazandu, G.K. The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research. Genes2019, 10, 960.
Hotchkiss, J.; Manyisa, N.; Adadey, S.M.; Oluwole, O.G.; Wonkam, E.; Mnika, K.; Yalcouye, A.; Nembaware, V.; Haendel, M.; Vasilevsky, N.; Mulder, N.J.; Jupp, S.; Wonkam, A.; Mazandu, G.K. The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research. Genes 2019, 10, 960.
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.
hearing impairment; hearing loss; ontology; data harmonization; meta-analysis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.