Genetic_Disease

http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease

Genetic_Disease

Scheuermann 2009 Genetic Disorder: A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism’s genome. Scheuermann 2009 Genetic Predisposition to Disease of Type X: A predisposition to disease of type X whose physical basis is a constitutional abnormality in an organism’s genome. This abnormality is the physical basis for the increased risk of acquiring disease X. Examples: p53 mutation in Li-Fraumeni Syndrome predisposing to cancer; ApoE alleles predisposing to Alzheimer’s disease.

http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Disease