Nephronophthisis 15 is an inherited kidney disorder caused by mutations in the CEP164 gene. This condition primarily affects the kidneys, often leadin...

Nephronophthisis 16 is a disorder that primarily affects kidney structure and function, with the hallmark findings of renal insufficiency and polycyst...

Nephronophthisis 2 is a kidney disorder caused by mutations in the INVS gene, leading to a progressive loss of renal function. This condition falls wi...

Nephronophthisis 3 is a kidney disorder in which the primary problem is a genetic defect affecting the function of the kidney’s filtering units. The c...

Nephronophthisis 4 is an inherited kidney disorder caused by mutations in the NPHP4 gene. It is classified as a form of nephronophthisis, a group of c...

Nephronophthisis 7 is a genetic kidney disorder caused by pathogenic variants in the GLIS2 gene. It is classified among nephronophthisis conditions, w...

Nephronophthisis 9 is an inherited kidney disorder that primarily affects the renal system and may also impact growth, blood parameters, and vision. I...

Nephronophthisis-like nephropathy 1 is a kidney disorder caused by mutations in the XPNPEP3 gene. It is characterized by consistent findings such as r...

Nephropathic cystinosis is an autosomal recessive disorder that primarily disrupts kidney function and growth due to the accumulation of cystine in va...

Nephropathic infantile cystinosis is a metabolic condition characterized by the abnormal accumulation of cystine within lysosomes, leading to tissue d...

Nephropathy, progressive tubulointerstitial, with cholestatic liver disease is a condition that primarily affects the kidneys and liver, leading to pr...