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 chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr38:2,878,677...2,956,226 JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr24:26,810,369...26,833,515
Ensembl chr24:26,809,843...26,833,434
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
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:mutation: :
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:mutation:exon:p.E924X(mouse)
DNA:deletion mutation:exon:
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:deletion:cds:
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 chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
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 chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutation:cds:p.G771D (human)
DNA:duplication:cds: (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
CTD
ClinVar
RGD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 RGD:11059521, RGD:11059522 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G SPTB spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
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 chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
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 chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
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 ISO OMIM NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
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 chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    Pathological Conditions, Signs and Symptoms 7610
      Signs and Symptoms 4608
        Skin Manifestations 135
          Jaundice 31
            obstructive jaundice 21
              Familial Obstructive Jaundice of Infancy 0
              hereditary spherocytosis + 10
Path 2
Term Annotations click to browse term
  disease 12678
    Developmental Diseases 8956
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7816
        genetic disease 7363
          inherited metabolic disorder 1997
            bilirubin metabolic disorder 53
              Jaundice 31
                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.