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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