From: Next generation phenotyping using narrative reports in a rare disease clinical data warehouse
 | RETT | DOCK8 | LOWE | SILVER RUSSELL | BARDET BIEDL | APDS |
---|---|---|---|---|---|---|
# Concepts HPO Orphadata (English) | 39 | 18 | 120 | 16 | 25 | – |
# Concepts HPO Orphadata (French) [A] | 31 | 10 | 76 | 6 | 17 | – |
# UMLS distinct phenotypes extracted [B] | 1022 | 706 | 577 | 738 | 801 | 710 |
# [A] intersection [B] (coverage) | 22 | 7 | 50 | 6 | 14 | – |
% [A] intersection [B] / [A] (coverage %) | 0.71 | 0.70 | 0.66 | 1.00 | 0.82 | – |