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. 2018 May 31;13:85. doi: 10.1186/s13023-018-0830-6

Table 5.

Comparison with Orphadata

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