Dubin-Johnson syndrome

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Information
Disease name
Dubin-Johnson syndrome
Disease ID
DOID:12308
Description
"A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile." [url:http\://en.wikipedia.org/wiki/Dubin-Johnson_syndrome]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
ABCC2 10 99,782,640 99,852,594 36
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:2741
Cross Reference ID (Disease Ontology)
GARD:6289
Cross Reference ID (Disease Ontology)
ICD10CM:E80.6
Cross Reference ID (Disease Ontology)
MESH:D007566
Cross Reference ID (Disease Ontology)
MIM:237500
Cross Reference ID (Disease Ontology)
NCI:C34741
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:44553005
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0022350
Exact Synonym (Disease Ontology)
chronic idiopathic jaundice
Exact Synonym (Disease Ontology)
Dubin Johnson syndrome
OrphaNumber from OrphaNet (Orphanet)
234