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Dubin-Johnson syndrome

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.
Uniprot Description Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0009380:  Dubin-Johnson syndrome
GARD:0002793: 
GARD:0006289: 
MESH:D007566: 
NCIT:C34741: 
Orphanet:234: 
SCTID:44553005: 
UMLS:C0022350: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)