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.
| 1. |
Bernstein J et al. (1987) Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.
|
| 2. |
OMIM.ORG article Omim 208540
|