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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 familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
Synonyms:exact_synonym: Bilirubin UDP glucuronyl transferase deficiency;   Crigler Najar Syndrome;   Crigler Najjar Syndrome, Type 1;   Crigler Najjar Syndrome, Type I;   Familial Nonhemolytic Unconjugated Hyperbilirubinemia;   HBLRCN1;   Hereditary Unconjugated Hyperbilirubinemia;   hyperbilirubinemia, Crigler -Najjar type I
 primary_id: MESH:D003414
 alt_id: OMIM:218800
 xref: ICD10CM:E80.5;   NCI:C84656;   ORDO:205
For additional species annotation, visit the Alliance of Genome Resources.



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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 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 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 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 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 JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 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:8276413 More... NCBI chr 9:88,727,094...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 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: 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
OMIM
PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,801,344...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 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 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 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 JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:8276413 More... NCBI chr 9:88,727,094...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: 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 9:88,696,981...88,808,465 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Crigler-Najjar syndrome 7
        Crigler Najjar Syndrome, Type 2 7
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            bilirubin metabolic disorder 70
              Hereditary Hyperbilirubinemia 16
                Crigler-Najjar syndrome 7
                  Crigler Najjar Syndrome, Type 2 7
paths to the root