Fig. 1
From: PhenPath: a tool for characterizing biological functions underlying different phenotypes
OMIM diseases as a function of associated HPO phenotypes. Data include 3837 HPO phenotypes (leaves of the HPO ontology) associated with 4023 OMIM diseases (Table 1, second row). Only 623 diseases (15%) are associated with a single phenotype, while about half of the diseases (47%) are associated with 5 or more phenotypes. Rubinstein-Taybi syndrome has the maximum number of associated HPO phenotypes (48, considering only leaves of the HPO graph)