Figure 4

HPO terms coded in BRIDGE-BPD study index cases. (A) Bar plot indicating the number of human phenotype ontology (HPO) terms annotated to the index cases. (B) Heat map showing the relative frequencies of HPO terms pertinent to abnormalities in platelets and bleeding symptoms and in other organ or disease areas in the BRIDGE-BPD index cases. The numbers in the brackets and the barplots indicate the number of index cases with at least one HPO term pertinent to abnormality in the organ or disease area after removal of overlapping terms. *indicates that the distribution of terms pertinent to enrolment for a particular column is significantly different compared to the sum (along rows) of all other columns (P value <0.05 after Bonferroni correction by chi-squared test). The columns are ordered by the number of cases having a term in each leading class.