Table 1.

Major construction terms used in the paper.

Term name	Annotation and example
Basic concept	The atomic concept from Unified Medical Language System [17], Gene Ontology [18], or domain knowledge, such as Gly, which is the amino acid glycine.
Combined concept	Combination of two or three basic concepts, such as Gly542, which is Gly’s location, 542 in the cystic fibrosis transmembrane conductance regulator amino acid chain.
Complex concept	Combinations of more than three basic concepts and usually they are subjects. A subset of the combined concepts is explained through the EHRa interface, such as Patient_CF_with_Gly542X, which is a group of cystic fibrosis patients with the Gly542X variant.
Supporting concept	Basic concepts and combined concepts, used in explaining the complex concept.
Final fact	A domain statement represented in OntoKBCFb through a combination of basic concepts or combined concepts with properties and logic relationships, such as property and description of Patient_CF_with_Gly542X.
Fact	Any concept above is a subset of facts, which includes (1) hierarchy of concepts, both basic and combined concepts, and (2) a property description of the concept.

^aEHR: electronic health record.

^bOntoKBCF: Ontology-based Knowledge Base prototype on Cystic Fibrosis.