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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;   hereditary hyperbilirubinemias;   rotor type hyperbilirubinemia
 primary_id: MESH:D006933
 alt_id: OMIM:237450;   RDO:0005293;   RDO:0016141
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
IMP
ClinVar Annotator: match by term: Rotor syndrome ClinVar
OMIM
RGD
PMID:21278621 PMID:22232210 PMID:25546334 PMID:25741868 PMID:27040692 More... RGD:150521535 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Slco1b2em1Myliu solute carrier organic anion transporter family member 1B2; CRISPR/Case9 induced mutant 1, Myliu IMP RGD PMID:32528832 RGD:150521535
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:15753292 RGD:1354702 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Crigler Najjar Syndrome, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by OMIM:606785
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar
OMIM
PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,747,229...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by synonym: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Crigler-Najjar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
treatment
ISO
IMP
DNA:splice-site mutations
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 Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by OMIM:218800
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 More... RGD:1600438, RGD:13432067, RGD:10769363, RGD:10769340, RGD:6482851, RGD:6482856 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 More... NCBI chr 9:88,747,229...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by synonym: Crigler Najjar syndrome, type 1
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 Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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
IMP
DNA:missense mutation, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Dubin-Johnson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:237500
ClinVar
CTD
OMIM
RGD
PMID:9185779 PMID:9425227 PMID:9878557 PMID:10053008 PMID:10464142 More... RGD:1598616, RGD:150429696, RGD:69812 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...174,950,857
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
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's syndrome ClinVar NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: Gilbert syndrome
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by OMIM:143500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 PMID:8528206 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: Gilbert syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 PMID:8528206 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: Gilbert syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 PMID:8528206 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: Gilbert syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 PMID:8528206 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: Gilbert syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 PMID:8528206 More... NCBI chr 9:88,747,229...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: Gilbert syndrome
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 PMID:8528206 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by OMIM:237900
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar Annotator: match by term: Hyperbilirubinemia transient familial neonatal
ClinVar
OMIM
PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 More... NCBI chr 9:88,747,229...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar Annotator: match by term: Hyperbilirubinemia transient familial neonatal
ClinVar PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Pathological Conditions, Signs and Symptoms 10388
      Pathologic Processes 6861
        bilirubin metabolic disorder 69
          Hereditary Hyperbilirubinemia 15
            Conjugated Hyperbilirubinemia Type III 0
            Crigler-Najjar syndrome + 6
            Dubin-Johnson syndrome 6
            Gilbert syndrome 7
            Hyperbilirubinemia, Shunt 0
            Hyperbilirubinemia, Transient Familial Neonatal 6
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          inherited metabolic disorder 2663
            bilirubin metabolic disorder 69
              Hereditary Hyperbilirubinemia 15
                Conjugated Hyperbilirubinemia Type III 0
                Crigler-Najjar syndrome + 6
                Dubin-Johnson syndrome 6
                Gilbert syndrome 7
                Hyperbilirubinemia, Shunt 0
                Hyperbilirubinemia, Transient Familial Neonatal 6
paths to the root