Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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

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.

ID

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/autosomal_recessive.yaml

database_cross_reference

SCTID:28770003

MedDRA:10036047

DOID:0110861

UMLS:C0085548

NCIT:C84579

ICD9:753.14

Orphanet:731

ICD10:Q61.1

GARD:0008378

exactMatch

http://identifiers.org/mesh/D017044

http://purl.obolibrary.org/obo/DOID_0110861

http://purl.obolibrary.org/obo/NCIT_C84579

http://identifiers.org/omim/263200

http://identifiers.org/snomedct/28770003

http://www.orpha.net/ORDO/Orphanet_731

http://linkedlifedata.com/resource/umls/id/C0085548

http://identifiers.org/meddra/10036047

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

id

MONDO:0009889

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease

label

autosomal recessive polycystic kidney disease

notation

MONDO:0009889

prefLabel

autosomal recessive polycystic kidney disease

textual definition

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.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018396

http://purl.obolibrary.org/obo/MONDO_0018409

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

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

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