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[Preprint]. 2024 Nov 20:2024.11.19.24317561. [Version 1] doi: 10.1101/2024.11.19.24317561

Figure 3. GDRs curated are highly syndromic in nature.

Figure 3.

HPO higher order terms representing the phenotypic features associated with each disease assertion were graphed by counting the number of HPO terms under each higher order term. For terms that were lumped, HPO terms for all of the assertions were combined and counted. All diseases involved two or more organ systems, while the majority (88/111 GDRs, 79.2%) had five or more organ systems affected.