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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: MIM:237450;   RDO:0005293;   RDO:0016141


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: Hyperbilirubinemia, Rotor type | ClinVar Annotator: match by term: Rotor syndrome | ClinVar Annotator: match by term: SLCO1B3-related condition OMIM
ClinVar
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 term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 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 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 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 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 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 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 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 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr 9:88,747,213...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: 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 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 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: 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 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 | ClinVar Annotator: match by term: 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 PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 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 | 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 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 | 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 chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: CRIGLER-NAJJAR SYNDROME, 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: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8102509 More... NCBI chr 9:88,727,094...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: Crigler-Najjar syndrome | ClinVar Annotator: match by term: 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 PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 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		 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
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 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 syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 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: 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 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: 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 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: 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 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: 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 chr 9:88,747,213...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 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 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 term: Transient familial neonatal hyperbilirubinemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 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:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 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:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 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:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 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:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,747,213...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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 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 19100
    Pathological Conditions, Signs and Symptoms 13604
      Pathologic Processes 8260
        bilirubin metabolic disorder 73
          Hereditary Hyperbilirubinemia 16
            Conjugated Hyperbilirubinemia Type III 0
            Crigler-Najjar syndrome + 7
            Dubin-Johnson syndrome 6
            Gilbert syndrome 7
            Hyperbilirubinemia, Shunt 0
            Hyperbilirubinemia, Transient Familial Neonatal 6
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            bilirubin metabolic disorder 73
              Hereditary Hyperbilirubinemia 16
                Conjugated Hyperbilirubinemia Type III 0
                Crigler-Najjar syndrome + 7
                Dubin-Johnson syndrome 6
                Gilbert syndrome 7
                Hyperbilirubinemia, Shunt 0
                Hyperbilirubinemia, Transient Familial Neonatal 6
paths to the root