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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:Jaundice
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Accession:DOID:9004898 term browser browse the term
Definition:A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Synonyms:exact_synonym: Hemolytic Jaundice;   Hemolytic Jaundices;   Icterus
 primary_id: MESH:D007565

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Jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Biliary Atresia; protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chrNW_004936588:4,973,476...4,998,365 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:24178751 PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 More... NCBI chrNW_004936518:4,706,496...4,847,283
Ensembl chrNW_004936518:4,706,500...4,847,316 		JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chrNW_004936497:6,755,626...6,788,568
Ensembl chrNW_004936497:6,755,553...6,790,944 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Invs inversin ISO RGD PMID:10421642 RGD:155791685 NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620 		JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO RGD PMID:8502229 RGD:11576308 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G LOC101969421 cytochrome P450 1A2 ISO mRNA:decreased expression:liver RGD PMID:8502229 PMID:18442205 RGD:11576308 RGD:2303375 NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO associated with biliary atresia; protein:decreased expression:blood serum (human) RGD PMID:21484122 RGD:329845870 NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208 		JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO DNA:deletion mutation:exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant		 RGD
ClinVar		 PMID:14671619 PMID:25741868 PMID:28492532 RGD:11251681 NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:28492532 NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788 		JBrowse link
G Klf1 KLF transcription factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD
MouseDO		 PMID:20691777 RGD:10769342 NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003 		JBrowse link
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chrNW_004936740:1,765,462...1,766,403
Ensembl chrNW_004936740:1,765,462...1,766,403 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:36231035 NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive		 ClinVar PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078 		JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141 		JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISO OMIM:182900 MouseDO NCBI chrNW_004936491:14,856,764...14,971,161
Ensembl chrNW_004936491:14,862,531...14,971,329 		JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive OMIM
ClinVar		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO OMIM:182900 MouseDO NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM:182900 MouseDO NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078 		JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chrNW_004936495:8,373,985...8,414,616
Ensembl chrNW_004936495:8,398,397...8,414,006 		JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar NCBI chrNW_004936740:1,765,462...1,766,403
Ensembl chrNW_004936740:1,765,462...1,766,403 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive OMIM
ClinVar		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078 		JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 ClinVar PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876 		JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 5 OMIM
ClinVar		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753 		JBrowse link
Hyperbiliverdinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blvra biliverdin reductase A ISO ClinVar Annotator: match by term: Hyperbiliverdinemia OMIM
ClinVar		 PMID:19580635 PMID:21278388 PMID:25741868 NCBI chrNW_004936478:18,811,452...18,850,594
Ensembl chrNW_004936478:18,833,172...18,852,839 		JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586 		JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004936528:8,005,223...8,007,586
Ensembl chrNW_004936528:8,005,189...8,007,643 		JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO RGD PMID:9161836 RGD:11036102 NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chrNW_004936579:6,138,372...6,149,531
Ensembl chrNW_004936579:6,138,281...6,145,205 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936561:3,017,471...3,035,481
Ensembl chrNW_004936561:3,016,926...3,035,552 		JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chrNW_004936485:13,766,221...13,771,215 JBrowse link
G Tlr2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chrNW_004936498:3,059,700...3,066,112
Ensembl chrNW_004936498:3,059,297...3,066,197 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    Pathological Conditions, Signs and Symptoms 11331
      Signs and Symptoms 9413
        Skin Manifestations 115
          Jaundice 34
            Deal Barratt Dillon Syndrome 0
            Dysmyelination with Jaundice 0
            Hyperbiliverdinemia 1
            Lutz Richner Landolt Syndrome 0
            obstructive jaundice + 24
Path 2
Term Annotations click to browse term
  disease 14511
    Developmental Disease 12617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11812
        genetic disease 11494
          inherited metabolic disorder 5255
            bilirubin metabolic disorder 53
              Jaundice 34
                Deal Barratt Dillon Syndrome 0
                Dysmyelination with Jaundice 0
                Hyperbiliverdinemia 1
                Lutz Richner Landolt Syndrome 0
                obstructive jaundice + 24
paths to the root