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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:obstructive jaundice
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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.



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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G IRF5 interferon regulatory factor 5 ISO mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843
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 IAGP
ISO
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar
RGD
PMID:8640229 PMID:14671619 PMID:9054656 PMID:23390527 PMID:19179303 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,762
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD
PMID:1558976 RGD:1598910 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G KLF1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD
PMID:20691777 RGD:10769342 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP
EXP
DNA:duplication:cds: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
CTD
ClinVar
RGD
PMID:1378323 PMID:8282779 PMID:9326249 PMID:9207478 PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP
ISO
DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
DNA:deletion:cds:
ClinVar
RGD
PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... RGD:11059521, RGD:11059522 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G SPTB spectrin beta, erythrocytic IEP
IAGP
EXP
mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds,splice junction:
ClinVar
CTD
RGD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:19538529 More... RGD:11059526, RGD:11059526 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273
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 ISS OMIM:182900 MouseDO NCBI chr 2:70,656,784...70,768,200
Ensembl chr 2:70,607,618...70,768,225
JBrowse link
G ANK1 ankyrin 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 1
ClinVar Annotator: match by term: Hereditary spherocytosis type 1
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar
OMIM
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 More... NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,762
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G LOC124153154 Sharpr-MPRA regulatory region 1462 IAGP ClinVar Annotator: match by term: Hereditary spherocytosis type 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar PMID:8640229 PMID:16037067 PMID:25741868 PMID:28492532 NCBI chr 8:41,725,651...41,725,945 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
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 IAGP ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Hereditary spherocytosis type 2
ClinVar Annotator: match by term: Spectrin s-ta barbara
ClinVar
OMIM
PMID:7883966 PMID:8844207 PMID:9714702 PMID:11703334 PMID:19538529 More... NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907
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 IAGP ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Hereditary spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar
OMIM
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
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) IAGP ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar Annotator: match by term: Hereditary spherocytosis type 4
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 4
ClinVar
OMIM
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
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 IAGP ClinVar Annotator: match by term: Spherocytosis type 5
ClinVar Annotator: match by term: Hereditary spherocytosis type 5
ClinVar
OMIM
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22046
    Pathological Conditions, Signs and Symptoms 13185
      Signs and Symptoms 8619
        Skin Manifestations 129
          Jaundice 36
            obstructive jaundice 25
              Familial Obstructive Jaundice of Infancy 0
              hereditary spherocytosis + 12
Path 2
Term Annotations click to browse term
  disease 22046
    Developmental Disease 16474
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14166
        genetic disease 13548
          inherited metabolic disorder 4944
            bilirubin metabolic disorder 68
              Jaundice 36
                obstructive jaundice 25
                  Familial Obstructive Jaundice of Infancy 0
                  hereditary spherocytosis + 12
paths to the root