Phenotypical Similarity Derivation from Disease Classification Systems

Diseases from the same disease category exhibit a high phenotypic homogeneity [26]; we assume that phenotypical similarity is evidently presenting among sibling diseases, which share the same parent diseases in disease classification systems. To further prove our assumption by assessing 3 disease classification systems, including GARD, MONDO, and Orphanet, we developed a web application to search and review a specific disease term presenting in these 3 disease trees to perform a comparison. This web application is publicly accessible [27]. Figure 2 shows one screenshot of the search results for “Wilson disease.” MONDO and Orphanet have more refined and complete disease classifications than the GARD, which enables phenotypical similarity identification for GARD diseases.

Disease tree visualization via the GARD Data Tree web tool.