abnormal cholangiocyte primary cilium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen (Mammalian Phenotype Ontology, MP_0012238)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012238
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2 gene mutations causing the abnormal cholangiocyte primary cilium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)