Human Phenotype Ontology

Last uploaded: April 26, 2024
Preferred Name

Polycystic kidney dysplasia

Synonyms

Enlarged polycystic kidneys

Polycystic kidneys

Polycystic kidney disease

Definitions

Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. The presence of multiple cysts in both kidneys.

ID

http://purl.obolibrary.org/obo/HP_0000113

comment

Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys.

database_cross_reference

MSH:D007690

Fyler:4508

SNOMEDCT_US:82525005

UMLS:C0022680

UMLS:C1567435

definition

The presence of multiple cysts in both kidneys.

has_alternative_id

HP:0008699

HP:0008645

HP:0008673

HP:0004716

HP:0004739

HP:0004740

has_exact_synonym

Enlarged polycystic kidneys

Polycystic kidneys

has_obo_namespace

human_phenotype

has_related_synonym

Polycystic kidney disease

id

HP:0000113

label

Polycystic kidney dysplasia

notation

HP:0000113

prefLabel

Polycystic kidney dysplasia

treeView

http://purl.obolibrary.org/obo/HP_0000107

subClassOf

http://purl.obolibrary.org/obo/HP_0000107

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