autosomal recessive polycystic kidney disease

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pkhd1, dzip1l

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009889 - secondary heart field

MONDO:0009889 - secondary heart field

MIM:

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

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, Ontobee

Parent(s): autosomal recessive disease (is_a), polycystic kidney disease (is_a)