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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 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
PMID:1634050, PMID:1692835, PMID:7906695, PMID:7936809, PMID:8276413, PMID:9039987, PMID:9497253, PMID:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, PMID:18004206, PMID:18414213, PMID:19325249, PMID:22325916, PMID:22514612, PMID:22983686, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24390994, PMID:25370011, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26697581, PMID:26716871, PMID:26727668, PMID:28492532, PMID:9497253, PMID:16337205, PMID:22765254, PMID:24285217, PMID:22094718, PMID:16019265 RGD:1600438, RGD:13432067, RGD:10769363, RGD:10769340, RGD:6482851, RGD:6482856 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: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
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, PMID:9039987, PMID:9497253, PMID:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, PMID:18004206, PMID:18414213, PMID:19325249, PMID:22325916, PMID:22514612, PMID:22983686, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24390994, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26697581, PMID:26716871, PMID:26727668, PMID:28492532 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: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
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, PMID:9039987, PMID:9497253, PMID:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, PMID:18004206, PMID:18414213, PMID:19325249, PMID:22325916, PMID:22514612, PMID:22983686, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24390994, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26697581, PMID:26716871, PMID:26727668, PMID:28492532 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: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
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, PMID:9039987, PMID:9497253, PMID:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, PMID:18004206, PMID:18414213, PMID:19325249, PMID:22325916, PMID:22514612, PMID:22983686, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24390994, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26697581, PMID:26716871, PMID:26727668, PMID:28492532 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: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
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, PMID:9039987, PMID:9497253, PMID:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, PMID:18004206, PMID:18414213, PMID:19325249, PMID:22325916, PMID:22514612, PMID:22983686, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24390994, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26697581, PMID:26716871, PMID:26727668, PMID:28492532 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: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
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, PMID:9039987, PMID:9497253, PMID:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, PMID:18004206, PMID:18414213, PMID:19325249, PMID:22325916, PMID:22514612, PMID:22983686, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24390994, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26697581, PMID:26716871, PMID:26727668, PMID:28492532 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 1
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, PMID:9039987, PMID:9497253, PMID:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, PMID:18004206, PMID:18414213, PMID:19325249, PMID:22325916, PMID:22514612, PMID:22983686, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24390994, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26697581, PMID:26716871, PMID:26727668, PMID:28492532 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 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 16108
    syndrome 6992
      Crigler-Najjar syndrome 8
        Crigler Najjar Syndrome, Type 2 7
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            bilirubin metabolic disorder 67
              Hereditary Hyperbilirubinemia 15
                Crigler-Najjar syndrome 8
                  Crigler Najjar Syndrome, Type 2 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.