Figure 1.

Phenotypic specificity in COG‐CDG. The ratio of the number of COG‐CDG patients over the number of HPO associated genes is depicted on the y‐axis, while all the different phenotypic features, indicated by their HPO code, are depicted on the x‐axis. A, In red, the 10 most specific COG‐CDG phenotypic features. B, In red, the 10 most specific COG‐CDG phenotypic features after excluding “fever” and “abnormality of temperature regulation” as super classes of “episodic fever”. Now “absent speech” and “abnormality of coagulation” reach top 10. CDG, congenital disorder of glycosylation; COG, conserved oligomeric Golgi; HPO, human phenotype ontology