Figure 5: Analysis of the relationship of assigned HPO Terms to manual standard.

Examination of the HPO terms returned that did not match the manually annotated standard were considered false positives. A) We completed a deeper analysis of these terms to better understand their nature and categorized them into distinct groups based on their relationship to the standard: Direct relatives, distant relatives, hallucinations, and unrelated terms. B) Depicts the false positive types in relation to the target term (in purple) with direct and indirect relatives being on the same phenotypic abnormality branch, unrelated terms belonging to completely different branches of the HPO, and hallucinations having no existence within the HPO database.