National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Dubin-Johnson Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34741

ALT_DEFINITION

A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract.

code

C34741

DEFINITION

An inherited autosomal recessive disorder characterized by the presence of mild jaundice due to abnormalities in the bilirubin transportation from the liver parenchyma to the biliary system.

FULL_SYN

Chronic Idiopathic Jaundice

label

Dubin-Johnson Syndrome

Legacy_Concept_Name

Dubin-Johnson_Syndrome

Preferred_Name

Dubin-Johnson Syndrome

prefixIRI

C34741

prefLabel

Dubin-Johnson Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0022350

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12308 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/237500 Online Mendelian Inheritance in Man LOOM