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ONTOLOGY REPORT - ANNOTATIONS


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;   HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I;   Hereditary Unconjugated Hyperbilirubinemia
 primary_id: MESH:D003414;   RDO:0001694
 alt_id: OMIM:218800
For additional species annotation, visit the Alliance of Genome Resources.


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Crigler-Najjar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 RGD:1600438
RGD:8554872
RGD:13432067
RGD:11554173
RGD:10769363
RGD:10769340
RGD:7240710
RGD:6482851
RGD:6482856
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 JBrowse link 9 95,285,592 95,302,822 RGD:8554872
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 JBrowse link 9 95,274,707 95,302,822 RGD:8554872
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 JBrowse link 9 95,256,628 95,302,822 RGD:8554872
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 JBrowse link 9 95,241,609 95,302,822 RGD:8554872
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 JBrowse link 9 95,221,474 95,302,822 RGD:8554872
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 JBrowse link 9 95,161,157 95,302,822 RGD:8554872
Crigler Najjar Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 RGD:8554872
RGD:7240710
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 JBrowse link 9 95,285,592 95,302,822 RGD:8554872
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 JBrowse link 9 95,274,707 95,302,822 RGD:8554872
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 JBrowse link 9 95,256,628 95,302,822 RGD:8554872
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 JBrowse link 9 95,241,609 95,302,822 RGD:8554872
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 JBrowse link 9 95,221,474 95,302,822 RGD:8554872
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 JBrowse link 9 95,161,157 95,302,822 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Crigler-Najjar syndrome 8
        Crigler Najjar Syndrome, Type 2 7
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            bilirubin metabolic disorder 56
              Hereditary Hyperbilirubinemia 14
                Crigler-Najjar syndrome 8
                  Crigler Najjar Syndrome, Type 2 7
paths to the root