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autosomal recessive polycystic kidney disease

Disease Summary
Associated Targets (9)
Tbio

5

Tclin

3

Tdark

1


GARD Rare
Mondo Description Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009889:  autosomal recessive polycystic kidney disease
GARD:0008378: 
ICD9:753.14: 
NCIT:C84579: 
Orphanet:731: 
SCTID:28770003: 
UMLS:C0085548: