Term Name: | autosomal recessive polycystic kidney disease |
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Synonyms: | Arpkd, Pkhd1, Polycystic Kidney and Hepatic Disease 1, Polycystic Kidney Disease, Infantile, Type I |
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. |
Ontology: | Human Disease [DOID:0110861] ( DOID:0110861 ) |