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Crigler Najjar Syndrome, Type 1 - Ontology Report - Rat Genome Database

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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, Type 1
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Accession:DOID:9009271 term browser browse the term
Definition:A potentially lethal disorder characterized by markedly elevated serum concentrations of unconjugated bilirubin, which may lead to brain damage (kernicterus), caused by homozygous or compound heterozygous mutation in the UDP-glycuronosyltransferase gene (UGT1A1) on chromosome 2q37.
Synonyms:exact_synonym: Crigler Najjar Syndrome, Type I;   HBLRCN1;   hyperbilirubinemia, Crigler-Najjar type I
 xref: MIM:218800

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Crigler Najjar Syndrome, Type 1 term browser
Symbol Object Name 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 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I OMIM
ClinVar		 PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7491021 More... NCBI chr 9:96,249,143...96,256,264
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 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7491021 More... NCBI chr 9:96,239,019...96,256,264
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 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7491021 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 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7491021 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 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7491021 More... NCBI chr 9:96,195,018...96,256,264
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 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7491021 More... NCBI chr 9:96,144,786...96,256,264
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 19143
    syndrome 11406
      Crigler-Najjar syndrome 7
        Crigler Najjar Syndrome, Type 1 6
Path 2
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6627
            bilirubin metabolic disorder 77
              Hereditary Hyperbilirubinemia 16
                Crigler-Najjar syndrome 7
                  Crigler Najjar Syndrome, Type 1 6
paths to the root