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. 2018 Aug 30;103(3):389–399. doi: 10.1016/j.ajhg.2018.08.003

Figure 2.

Figure 2

Process of Identifying Disease-Phenotype Associations from Case Reports

The set of titles and abstracts of case reports were annotated with HPO terms and ORDO terms using ConceptMapper with HPO and ORDO (step 1), and annotations with inappropriate synonyms were excluded using the Allie database (step 2). DPAs were identified in processed annotations (step 3).