In the Ketosis example, only two diseases were associated with onset data: Methylmalonic aciduria, cblA type (caused by MMAA) annotated as both ‘neonatal’ and ‘infantile’ and Glycogen storage disease IXc (caused by PHKG2) which also an infantile disease according to HPO. The gene discussed is PHKG2; the disease is glycogen storage disease due to liver phosphorylase kinase deficiency.