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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...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 chr17:34,255,218...34,257,203
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...140,633,701
JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:196,652,033...196,747,504
Ensembl chr 1:196,652,043...196,747,504
Ensembl chr 1:196,652,043...196,747,504
JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,549
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 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr11:73,974,671...73,983,202
Ensembl chr11:73,974,672...73,983,246
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 PMID:8640229, PMID:14671619, PMID:9054656, PMID:23390527, PMID:19179303, PMID:23934996, PMID:21193012 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 PMID:1558976 RGD:1598910 NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
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 PMID:20691777 RGD:10769342 NCBI chr19:12,884,422...12,887,201
Ensembl 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
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr17:44,248,390...44,268,161
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
DNA:deletion:cds:
ClinVar PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr 1:158,610,498...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
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532, PMID:19538529, PMID:19538529 RGD:11059526, RGD:11059526 NCBI chr14:64,744,106...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 3:124,730,442...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: 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, PMID:11167760, PMID:12899723, PMID:15071790, PMID:16037067, PMID:17327413, PMID:24033266, PMID:25741868, PMID:28492532 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...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr 1:158,610,498...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: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin s-ta barbara
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736, PMID:3654760, PMID:6215583, PMID:7883966, PMID:8102379, PMID:8844207, PMID:9414314, PMID:9714702, PMID:11703334, PMID:19538529, PMID:25741868 NCBI chr14:64,744,106...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: Spherocytosis, type 3, autosomal recessive
ClinVar
OMIM
PMID:1638030, PMID:3785322, PMID:8081008, PMID:8370581, PMID:8941647, PMID:15071791, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 1:158,610,498...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
OMIM
PMID:893429, PMID:1378323, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:7530501, PMID:7812009, PMID:8011524, PMID:8206915, PMID:8282779, PMID:8343110, PMID:8471774, PMID:8547122, PMID:8567957, PMID:8608262, PMID:8704215, PMID:9207478, PMID:9312167, PMID:9734643, PMID:9973643, PMID:10745622, PMID:10942416, PMID:11155072, PMID:11380459, PMID:16227998, PMID:19229254, PMID:21039340, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr17:44,248,390...44,268,161
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
OMIM
PMID:1558976, PMID:2386772, PMID:7772513, PMID:7803799, PMID:8319790, PMID:8528207, PMID:10406914, PMID:12176912, PMID:19508687, PMID:25741868, PMID:28492532 NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18836
    Pathological Conditions, Signs and Symptoms 9658
      Signs and Symptoms 5936
        Skin Manifestations 148
          Jaundice 33
            obstructive jaundice 22
              Familial Obstructive Jaundice of Infancy 0
              hereditary spherocytosis + 11
Path 2
Term Annotations click to browse term
  disease 18836
    Developmental Diseases 12131
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9981
        genetic disease 9460
          inherited metabolic disorder 2431
            bilirubin metabolic disorder 66
              Jaundice 33
                obstructive jaundice 22
                  Familial Obstructive Jaundice of Infancy 0
                  hereditary spherocytosis + 11
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.