Moreover, four patients (P1–3 and P5) had symptoms compatible with NPHP1 ciliopathy related CKD such as “reins discrètement hyperéchogènes” (mildly hyperechogenic kidneys), “infléchissement staturo-pondéral” (growth faltering) or “syndrome polyuro-polydipsique” (polyuro-polydipsia syndrome), that the UMLS-based extraction module of Dr. Warehouse failed to extract, because the expression used in the documents did not exist in the UMLS. Here, NPHP1 is linked to ciliopathy.