Etiology context of rare diseases in the Human Disease Ontology.

Lynn M. Schriml J. Allen Baron

Published in: BIBM (2021)

Keyphrases

clinically relevant
context aware
disease diagnosis
domain knowledge
ontological framework
semantic web
diagnostic process
knowledge management
domain specific
human experts
genome wide
single nucleotide polymorphisms
complex diseases
colorectal cancer
expressed in natural language