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renal-hepatic-pancreatic dysplasia 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.
Uniprot Description A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.
Mondo Term and Equivalent IDs
MONDO:0008833:  renal-hepatic-pancreatic dysplasia 1
UMLS:C3715199: