Table 2 Examples of phenotypic information represented using our proposed annotation scheme
COPD Phenotypes | Automatically recognized underlying concepts | Automatically linked ontological concepts |
|---|---|---|
chronic airways obstruction | chronic airways obstruction | chronic (PATO:0001863) respiratory airway (UBERON:0001005) obstructed (PATO:0000648) |
parenchymal destruction | parenchymal destruction | parenchyma (UBERON:0000353) damaged (PATO:0001167) |
decrease in rate of lung function | decrease in rate lung function | decreased rate (PATO:0000911) lung (UBERON:0002048) function (PATO:0000173) |
chronic bronchitis | N/A | chronic bronchitis (DOID:6132) |
myocardial infarction | N/A | myocardial infarction (DOID:5844) |
enhanced response to inhaled corticosteroids | enhanced response to corticosteroids | enhanced (PATO:0001589) response to (PATO:0000077) corticosteroid (ChEBI:50858) |
FEV1 45% predicted | FEV1 | Forced Expiratory Volume 1 Test (NCIT:C38084) |
alpha1 antitrypsin deficiency | alpha1 antitrypsin deficiency | alpha-1-antitrypsin (PR:000014678) decreased amount (PATO:0001997) |