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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease joubert syndrome
Comorbidity C0022658|renal disease
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PubMedID- 22260509 renal disease affects approximately 30% of patients with jbts, presenting itself in most cases as nephronophthisis (nphp), a structural tubulo-interstitial disorder characterized by thickened basal membrane of the tubular epithelium and progressive interstitial fibrosis, associated with cysts at the cortico-medullary junction.

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