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Neonatal Hyperbilirubinemia - 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: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

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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:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Hmox1 heme oxygenase 1 IMP RGD PMID:19646271 RGD:4145302 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr10:47,498,852...47,641,612
Ensembl chr10:46,999,536...47,141,032 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO DNA:polymorphism: :211G>A(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:28167773 PMID:21592495 RGD:10769330 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465 		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 		DNA:missense mutation, deletions:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome 		OMIM
CTD
ClinVar
RGD		 PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557 PMID:10053008 More... RGD:1598616, RGD:150429696, RGD:69812 NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP RGD PMID:14731123 RGD:1598620 NCBI chr10:79,793,571...79,839,528
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Rdx radixin ISS OMIM:237500 MouseDO NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:52,379,494...52,437,678 		JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:176,606,924...176,682,027
Ensembl chr 4:174,876,593...174,950,873 		JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:176,441,104...176,495,846
Ensembl chr 4:174,710,004...175,254,573 		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 term: Transient familial neonatal hyperbilirubinemia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7715297 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7715297 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7715297 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7715297 More... NCBI chr 9:96,210,053...96,256,264
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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7715297 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: Transient familial neonatal hyperbilirubinemia ClinVar PMID:805737 PMID:1634050 PMID:1692835 PMID:6480579 PMID:7715297 More... NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
neonatal jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutation: :563C>T (human) RGD PMID:24460025 RGD:10449116 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22371261 NCBI chr11:75,965,717...76,006,733
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Infant, Newborn, Diseases 1297
          Neonatal Hyperbilirubinemia 18
            Hyperbilirubinemia, Transient Familial Neonatal 6
            neonatal jaundice + 9
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            bilirubin metabolic disorder 77
              Neonatal Hyperbilirubinemia 18
                Hyperbilirubinemia, Transient Familial Neonatal 6
                neonatal jaundice + 9
paths to the root