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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:Hereditary Hyperbilirubinemia
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Accession:DOID:9005094 term browser browse the term
Definition:Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.
Synonyms:exact_synonym: HBLRR;   Rotor Syndrome;   SLCO1B3-RELATED CONDITION;   hereditary hyperbilirubinemias;   rotor type hyperbilirubinemia
 primary_id: MESH:D006933
 alt_id: OMIM:237450;   RDO:0005293;   RDO:0016141


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Hereditary Hyperbilirubinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLCO1B2 solute carrier organic anion transporter family member 1B2 ISO ClinVar Annotator: match by term: Hyperbilirubinemia, Rotor type | ClinVar Annotator: match by term: Rotor syndrome | ClinVar Annotator: match by term: SLCO1B3-related condition OMIM
ClinVar		 PMID:21278621 PMID:22232210 PMID:25546334 PMID:25741868 PMID:27040692 More... NCBI chr 5:52,137,454...52,206,236 JBrowse link
Crigler Najjar Syndrome, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 ISO ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr15:133,968,693...134,049,029 JBrowse link
Crigler-Najjar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 More... NCBI chr15:133,968,693...134,049,029 JBrowse link
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 ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome OMIM
ClinVar
RGD		 PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557 PMID:10053008 More... RGD:1598616 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO RGD PMID:14731123 RGD:1598620 NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,978,363 		JBrowse link
G RDX radixin ISO OMIM:237500 MouseDO NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097 		JBrowse link
G SLCO1A2 solute carrier organic anion transporter family member 1A2 ISO RGD PMID:14731123 RGD:1598620 NCBI chr 5:52,020,303...52,133,132
Ensembl chr 5:52,049,443...52,129,730 		JBrowse link
Gilbert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLCO1B2 solute carrier organic anion transporter family member 1B2 ISO ClinVar Annotator: match by term: Gilbert syndrome ClinVar NCBI chr 5:52,137,454...52,206,236 JBrowse link
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr15:133,968,693...134,049,029 JBrowse link
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr15:133,968,693...134,049,029 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Pathological Conditions, Signs and Symptoms 11801
      Pathologic Processes 7351
        bilirubin metabolic disorder 58
          Hereditary Hyperbilirubinemia 6
            Conjugated Hyperbilirubinemia Type III 0
            Crigler-Najjar syndrome + 1
            Dubin-Johnson syndrome 4
            Gilbert syndrome 2
            Hyperbilirubinemia, Shunt 0
            Hyperbilirubinemia, Transient Familial Neonatal 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          inherited metabolic disorder 5434
            bilirubin metabolic disorder 58
              Hereditary Hyperbilirubinemia 6
                Conjugated Hyperbilirubinemia Type III 0
                Crigler-Najjar syndrome + 1
                Dubin-Johnson syndrome 4
                Gilbert syndrome 2
                Hyperbilirubinemia, Shunt 0
                Hyperbilirubinemia, Transient Familial Neonatal 1
paths to the root