Preferred Name

autosomal recessive polycystic kidney disease

Synonyms

AR-PKD

polycystic kidney disease, infantile type

polycystic kidney disease, autosomal recessive

autosomal recessive polycystic kidney

ARPKD

PKHD1

polycystic kidney and hepatic disease 1

polycystic kidney disease, infantile, type I

Definitions

An inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

ID

http://purl.obolibrary.org/obo/MONDO_0009889

has_exact_synonym

AR-PKD

polycystic kidney disease, infantile type

polycystic kidney disease, autosomal recessive

autosomal recessive polycystic kidney

ARPKD

has_narrow_synonym

polycystic kidney and hepatic disease 1

polycystic kidney disease, infantile, type I

has_related_synonym

PKHD1

label

autosomal recessive polycystic kidney disease

prefixIRI

MONDO:0009889

prefLabel

autosomal recessive polycystic kidney disease

textual definition

An inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0006025

http://purl.obolibrary.org/obo/MONDO_0020642

http://purl.obolibrary.org/obo/MONDO_0005372

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