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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 2
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Accession:DOID:9001862 term browser browse the term
Synonyms:exact_synonym: Crigler-Najjar Syndrome, Type II;   HBLRCN2;   HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
 primary_id: MESH:C536213;   RDO:0001695
 alt_id: OMIM:606785
For additional species annotation, visit the Alliance of Genome Resources.


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Crigler Najjar Syndrome, Type 2 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 OMIM:606785
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar
OMIM
PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,285,592...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,274,707...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,221,474...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Crigler-Najjar syndrome 7
        Crigler Najjar Syndrome, Type 2 7
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            bilirubin metabolic disorder 67
              Hereditary Hyperbilirubinemia 14
                Crigler-Najjar syndrome 7
                  Crigler Najjar Syndrome, Type 2 7
paths to the root