Fig. 1.

Case and control datasets: pipeline and description. a Schematic overview of the patient selection process. b Description of the datasets. For each patient, age corresponds to the age at the date of the most recent EHR file. For each dataset, the three most frequent HPO terms per class of disorders using the HPO hierarchy are presented. IQR, Interquartile range; CD & CRD, Cone/cone-rod dystrophy; PPK, Palmoplantar hyperkeratosis. *CIL-ORPHA-related HPO phenotypes. †Polydipsia is classified as a nervous system disorder in the HPO but is generally associated with urine concentration defect in the context of renal ciliopathies