Fig. 2: Screen shots of the diagnostic reports generated by GDDP (computational Genetic Disease Diagnosis based on Phenotypes).
From: Novel phenotype–disease matching tool for rare genetic diseases
a A list of candidate diagnoses ranked by similarity between a patient’s phenotypes and phenotypes annotated to diseases. b Matching between the query Human Phenotype Ontology (HPO) terms (right side) and the HPO terms annotated to a candidate disorder (left side). The HPO terms annotated to a candidate disorder are sorted by their information content (also shown by the diameter of the dots). Perfect matches between a query and an HPO term annotated to the candidate disorder are highlighted in red. Partial matches are shown in blue. The numbers on the matching lines are the “similarity scores” as defined in the Methods section
