Combined Phenotype Ontology

Last uploaded: November 18, 2021
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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

SNOMEDCT_US:82525005

UMLS:C0022680

UMLS:C1567435

Fyler:4508
definition

The presence of multiple cysts in both kidneys.
equivalentClass

http://purl.obolibrary.org/obo/MP_0008528
has exact synonym

Enlarged polycystic kidneys

Polycystic kidneys
has related synonym

Polycystic kidney disease
has_alternative_id

HP:0004716

HP:0004739

HP:0004740

HP:0008645

HP:0008673

HP:0008699
id

HP:0000113
label

Polycystic kidney dysplasia
notation

HP:0000113
prefLabel

Polycystic kidney dysplasia
subClassOf

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

http://purl.obolibrary.org/obo/MP_0003675
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