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Table 5 Comparison with Orphadata

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

–