Renal-hepatic-pancreatic dysplasia 1 is an autosomal recessive ciliopathy caused by mutations of the NPHP3 gene. This disease's commonly used acronyme is RHPD. It is characteerized by malformations in kidneys, liver, and pancreas.
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Bernstein J et al. (1987) Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. |
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OMIM.ORG article Omim 208540 |