Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:obstructive jaundice
go back to main search page
Accession:DOID:13603 term browser browse the term
Definition:Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS.
Synonyms:exact_synonym: cholestatic jaundice;   cholestatic jaundice syndrome;   mechanical jaundice;   obstructive hyperbilirubinemia
 primary_id: MESH:D041781
 alt_id: RDO:0001911
 xref: NCI:C34742
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439
JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr20:34,670,128...34,703,046
Ensembl chr20:35,780,768...35,813,188
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
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:cds:
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:transition mutation:intron:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:deletion mutation:exon:
DNA:mutation:exon:p.E924X(mouse)
RGD
ClinVar
PMID:8640229, PMID:9054656, PMID:14671619, PMID:19179303, PMID:21193012, PMID:23390527, PMID:23934996 RGD:11041609, RGD:11251674, RGD:11251675, RGD:11251676, RGD:11251680, RGD:11251681, RGD:1578350 NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive RGD
ClinVar
PMID:1558976 RGD:1598910 NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
JBrowse link
G LOC100981887 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:133,965,449...133,966,390 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:deletion:cds:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:polymorphisms:introns,exon:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 RGD:11059521, RGD:11059522 NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
JBrowse link
G SPTB spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
mRNA:decreased expression:erythrocyte:
CTD
ClinVar
RGD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO OMIM NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic ISO OMIM NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100981887 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:133,965,449...133,966,390 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
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 OMIM NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 OMIM NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    Pathological Conditions, Signs and Symptoms 7560
      Signs and Symptoms 4618
        Skin Manifestations 134
          Jaundice 30
            obstructive jaundice 21
              Familial Obstructive Jaundice of Infancy 0
              hereditary spherocytosis + 10
Path 2
Term Annotations click to browse term
  disease 12751
    Developmental Diseases 9009
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7844
        genetic disease 7395
          inherited metabolic disorder 1958
            bilirubin metabolic disorder 51
              Jaundice 30
                obstructive jaundice 21
                  Familial Obstructive Jaundice of Infancy 0
                  hereditary spherocytosis + 10
paths to the root

NHLBI Logo

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