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PedAM

Pediatric Disease Annotations & Medicines




Disease nephronophthisis
Phenotype C0085413|autosomal dominant polycystic kidney disease
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PubMedID- 20497759 The following disorders are discussed by mode of inheritance: 1) autosomal dominant: autosomal dominant polycystic kidney disease, nephropathies associated with uromodulin (medullary cystic disease and familial juvenile hyperuricemic nephropathy), renal cysts and diabetes syndrome, nail-patella syndrome, glomerulopathy with fibronectin deposits.

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