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Table 2 Statistics between EMR and HPO-Orphanet on the number of rare diseases, phenotypes, and phenotype-disease associations

From: Rare disease knowledge enrichment through a data-driven approach

Number of Unique Rare Diseases Count
 HPO-Orphanet 2664
 EMR 476
 HPO-Orphanet and EMR 97
 In EMR but not in HPO-Orphanet 379
Number of Unique Phenotypes Count
 HPO-Orphanet 4577
 EMR 1337
 HPO-Orphanet and EMR 1013
 In EMR but not in HPO-Orphanet 324
Number of Unique Associations Count
 HPO-Orphanet 7529
 EMR 1973
 HPO-Orphanet and EMR 198
 In EMR but not in HPO-Orphanet 1775