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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:Crigler-Najjar syndrome
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Accession:DOID:3803 term browser browse the term
Definition:A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). (DO)
Synonyms:exact_synonym: Crigler Najar Syndrome;   Crigler Najjar Syndrome, Type 1;   Crigler Najjar Syndrome, Type I;   Familial Nonhemolytic Unconjugated Hyperbilirubinemia;   HBLRCN1;   Hereditary Unconjugated Hyperbilirubinemia;   bilirubin UDP glucuronyl transferase deficiency;   hyperbilirubinemia, Crigler-Najjar type I
 primary_id: MESH:D003414
 alt_id: MIM:218800
 xref: NCI:C84656;   ORDO:205
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II		 OMIM
CTD
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Crigler-Najjar syndrome 7
        Crigler Najjar Syndrome, Type 2 6
Path 2
Term Annotations click to browse term
  disease 19099
    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
                Crigler-Najjar syndrome 7
                  Crigler Najjar Syndrome, Type 2 6
paths to the root