Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

autosomal recessive polycystic kidney disease

Synonyms

Pkhd1

Polycystic Kidney and Hepatic Disease 1

Definitions

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.

ID

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

database_cross_reference

SNOMEDCT_US_2023_03_01:28770003

UMLS_CUI:C0085548

MESH:D017044

ICD10CM:Q61.1

OMIM:263200

ICD9CM:753.14

GARD:8378

NCI:C84579

ORDO:731

has exact synonym

Pkhd1

Arpkd

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney and Hepatic Disease 1

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0110861

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

autosomal recessive polycystic kidney disease

notation

DOID:0110861

prefLabel

autosomal recessive polycystic kidney disease

textual definition

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.

subClassOf

http://purl.obolibrary.org/obo/DOID_0080322

http://purl.obolibrary.org/obo/DOID_0050737

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