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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:Neonatal Hyperbilirubinemia
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Accession:DOID:9002532 term browser browse the term
Definition:Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin.
Synonyms:exact_synonym: During Infancies, Hyperbilirubinemia;   Hyperbilirubinemia During Infancy;   Neonatal Direct Hyperbilirubinemia;   Neonatal Indirect Hyperbilirubinemia
 primary_id: MESH:D051556
 alt_id: RDO:0005911
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Neonatal Hyperbilirubinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased activity:blood RGD PMID:25092943 RGD:10449110 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Hmox1 heme oxygenase 1 IMP RGD PMID:19646271 RGD:4145302 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO DNA:polymorphism: :211G>A(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:28167773, PMID:21592495 RGD:10769330 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
Dubin-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO
IMP
ClinVar Annotator: match by term: Dubin-Johnson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:237500
ClinVar
CTD
OMIM
PMID:9185779, PMID:9425227, PMID:9878557, PMID:10053008, PMID:10464142, PMID:11266082, PMID:11477083, PMID:11901087, PMID:12388192, PMID:12395335, PMID:12942343, PMID:15180328, PMID:15519273, PMID:15821043, PMID:16012956, PMID:16847695, PMID:16952291, PMID:18334920, PMID:18445995, PMID:18673259, PMID:18974617, PMID:20799350, PMID:20849526, PMID:20981092, PMID:21044052, PMID:21449672, PMID:21691255, PMID:22290738, PMID:22318656, PMID:23557583, PMID:24033266, PMID:25087612, PMID:25111166, PMID:25336012, PMID:25741868, PMID:27604170, PMID:27706244, PMID:27882152, PMID:28492532, PMID:28713894, PMID:10053008, PMID:8599091 RGD:1598616, RGD:69812 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP RGD PMID:14731123 RGD:1598620 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Rdx radixin ISS OMIM:237500 MouseDO NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:176,158,174...176,231,331
Ensembl chr 4:176,158,640...176,231,344
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:175,969,549...176,026,227
Ensembl chr 4:175,969,549...176,026,163
JBrowse link
Hyperbilirubinemia, Transient Familial Neonatal 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:237900
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar Annotator: match by term: Hyperbilirubinemia transient familial neonatal
ClinVar
OMIM
PMID:9784835, PMID:9929972, PMID:10412811, PMID:10472535, PMID:11061796, PMID:11156391, PMID:11182932, PMID:12181437, PMID:12208142, PMID:12502904, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16636344, PMID:17627617, PMID:17850628, PMID:18004206, PMID:18221820, PMID:18414213, PMID:19243019, PMID:19299905, PMID:19325249, PMID:19390945, PMID:22325916, PMID:22514612, PMID:22983686, PMID:22992668, PMID:23014115, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24033692, PMID:24308720, PMID:24390994, PMID:24448639, PMID:24519753, PMID:25285015, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26229432, PMID:26604633, PMID:26697581, PMID:26716871, 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835, PMID:9929972, PMID:10412811, PMID:10472535, PMID:11061796, PMID:11156391, PMID:11182932, PMID:12181437, PMID:12208142, PMID:12502904, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16636344, PMID:17627617, PMID:17850628, PMID:18004206, PMID:18221820, PMID:18414213, PMID:19243019, PMID:19299905, PMID:19325249, PMID:19390945, PMID:22325916, PMID:22514612, PMID:22983686, PMID:22992668, PMID:23014115, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24033692, PMID:24308720, PMID:24390994, PMID:24448639, PMID:24519753, PMID:25285015, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26229432, PMID:26604633, PMID:26697581, PMID:26716871, 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835, PMID:9929972, PMID:10412811, PMID:10472535, PMID:11061796, PMID:11156391, PMID:11182932, PMID:12181437, PMID:12208142, PMID:12502904, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16636344, PMID:17627617, PMID:17850628, PMID:18004206, PMID:18221820, PMID:18414213, PMID:19243019, PMID:19299905, PMID:19325249, PMID:19390945, PMID:22325916, PMID:22514612, PMID:22983686, PMID:22992668, PMID:23014115, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24033692, PMID:24308720, PMID:24390994, PMID:24448639, PMID:24519753, PMID:25285015, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26229432, PMID:26604633, PMID:26697581, PMID:26716871, 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835, PMID:9929972, PMID:10412811, PMID:10472535, PMID:11061796, PMID:11156391, PMID:11182932, PMID:12181437, PMID:12208142, PMID:12502904, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16636344, PMID:17627617, PMID:17850628, PMID:18004206, PMID:18221820, PMID:18414213, PMID:19243019, PMID:19299905, PMID:19325249, PMID:19390945, PMID:22325916, PMID:22514612, PMID:22983686, PMID:22992668, PMID:23014115, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24033692, PMID:24308720, PMID:24390994, PMID:24448639, PMID:24519753, PMID:25285015, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26229432, PMID:26604633, PMID:26697581, PMID:26716871, 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835, PMID:9929972, PMID:10412811, PMID:10472535, PMID:11061796, PMID:11156391, PMID:11182932, PMID:12181437, PMID:12208142, PMID:12502904, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16636344, PMID:17627617, PMID:17850628, PMID:18004206, PMID:18221820, PMID:18414213, PMID:19243019, PMID:19299905, PMID:19325249, PMID:19390945, PMID:22325916, PMID:22514612, PMID:22983686, PMID:22992668, PMID:23014115, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24033692, PMID:24308720, PMID:24390994, PMID:24448639, PMID:24519753, PMID:25285015, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26229432, PMID:26604633, PMID:26697581, PMID:26716871, 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835, PMID:9929972, PMID:10412811, PMID:10472535, PMID:11061796, PMID:11156391, PMID:11182932, PMID:12181437, PMID:12208142, PMID:12502904, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16636344, PMID:17627617, PMID:17850628, PMID:18004206, PMID:18221820, PMID:18414213, PMID:19243019, PMID:19299905, PMID:19325249, PMID:19390945, PMID:22325916, PMID:22514612, PMID:22983686, PMID:22992668, PMID:23014115, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24033692, PMID:24308720, PMID:24390994, PMID:24448639, PMID:24519753, PMID:25285015, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26229432, PMID:26604633, PMID:26697581, PMID:26716871, 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 term: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar Annotator: match by term: Hyperbilirubinemia transient familial neonatal
ClinVar PMID:9784835, PMID:9929972, PMID:10412811, PMID:10472535, PMID:11061796, PMID:11156391, PMID:11182932, PMID:12181437, PMID:12208142, PMID:12502904, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16636344, PMID:17627617, PMID:17850628, PMID:18004206, PMID:18221820, PMID:18414213, PMID:19243019, PMID:19299905, PMID:19325249, PMID:19390945, PMID:22325916, PMID:22514612, PMID:22983686, PMID:22992668, PMID:23014115, PMID:23290513, PMID:23403257, PMID:23875061, PMID:23997956, PMID:24033692, PMID:24308720, PMID:24390994, PMID:24448639, PMID:24519753, PMID:25285015, PMID:25741868, PMID:25993113, PMID:26039129, PMID:26200705, PMID:26229432, PMID:26604633, PMID:26697581, PMID:26716871, 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
neonatal jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Neonatal jaundice ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutation: :563C>T (human) RGD PMID:24460025 RGD:10449116 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22371261 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Neonatal jaundice ClinVar NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          Neonatal Hyperbilirubinemia 20
            Hyperbilirubinemia, Transient Familial Neonatal 7
            neonatal jaundice + 10
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
              Neonatal Hyperbilirubinemia 20
                Hyperbilirubinemia, Transient Familial Neonatal 7
                neonatal jaundice + 10
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.