Improving rare disease classification using imperfect knowledge graph

摘要

A disease is defined as if it affects fewer than 1 in 2000 people in Europe [ ], or it affects fewer than 200,000 people in the United States (1 in 1500 people) [ ]. China has recently released its first national list of rare diseases [ ]. Across the globe, hundreds of millions of people could be affected by one of about 6000 known rare diseases [ ].