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Summary Literature (0)
DOID:0110861 - autosomal recessive polycystic kidney disease

Disease Ontology Definition:A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.

Synonyms: Arpkd, Pkhd1, Polycystic Kidney Disease, Infantile, Type I, Polycystic Kidney and Hepatic Disease 1, ARPKD, PKHD1, AR-PKD

Xenbase Genes : pkhd1, dzip1l

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009889 - secondary heart field

MIM:
MIM:263200 - POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), polycystic kidney disease (is_a)