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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Dubin-Johnson syndrome
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Accession:DOID:12308 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: ABCC2-RELATED CONDITION;   DJS;   HBLRDJ;   HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE;   Hyperbilirubinemia 2;   Hyperbilirubinemia II;   chronic idiopathic jaundice;   chronic idiopathic jaundices
 primary_id: MESH:D007566
 alt_id: MIM:237500
 xref: GARD:6289;   ICD10CM:E80.6;   NCI:C34741
For additional species annotation, visit the Alliance of Genome Resources.


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Dubin-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO
IMP		 CTD Direct Evidence: marker/mechanism
DNA:missense mutation, deletions:cds:multiple (human)
ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557 PMID:10053008 More... RGD:1598616, RGD:69812, RGD:150429696 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP RGD PMID:14731123 RGD:1598620 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Rdx radixin ISS OMIM:237500 MouseDO NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678 		JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873 		JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        inherited metabolic disorder 6610
          Hereditary Hyperbilirubinemia 16
            Dubin-Johnson syndrome 6
Path 2
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6610
            bilirubin metabolic disorder 73
              Neonatal Hyperbilirubinemia 18
                neonatal jaundice 9
                  Dubin-Johnson syndrome 6
paths to the root