Fig. 6
From: Rare disorders have many faces: in silico characterization of rare disorder spectrum
Occurrent Human Phenotype Ontology (HPO) terms for borderline-common disorders, and top 10 co-occurrent HPO terms. The following HPO terms prevalent for the borderline-common disorders were selected: Abdominal pain, arthralgia, fatigue, hypertension, seizures, short stature, depressivity, and headache (as presented in Table 3; highlighted using the selected color palette). For each of these HPO terms, we selected the most co-occurring HPO terms in the rare disorder (RD) spectrum (top 10, marked as grey) based on the number of RD that exhibit this pairwise combination of HPO terms. For example, seizures and global developmental delay can be observed for 234 RDs whereas seizures and hypertension only can be observed for 19 RDs. The more RDs exhibiting a certain combination of HPO terms, the thicker the line