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 |