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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.


GViewer not supported for chinchilla.
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obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
JBrowse link
G Alb albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chrNW_004955415:15,744,601...15,748,910
Ensembl chrNW_004955415:15,744,601...15,749,673
JBrowse link
G Tlr2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
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:exon:p.E924X(mouse)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:deletion:cds:
DNA:transition mutation:intron:
DNA:deletion mutation:exon:
DNA:mutation: :
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 chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466
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 chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194
JBrowse link
G Klf1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA:splicing error:intron:IVS8+1G>T (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutation:cds:p.G771D (human)
DNA:duplication:cds: (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
RGD
ClinVar
CTD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103
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 chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313
JBrowse link
G Sptb spectrin beta, erythrocytic ISO DNA:mutations:cds,splice junction:
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 chrNW_004955466:5,013,963...5,170,186
Ensembl chrNW_004955466:5,097,116...5,167,596
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
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 chrNW_004955536:1,049,325...1,237,943
Ensembl chrNW_004955536:1,049,407...1,237,943
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 chrNW_004955466:5,013,963...5,170,186
Ensembl chrNW_004955466:5,097,116...5,167,596
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313
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 chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103
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 chrNW_004955416:9,784,211...9,800,453
Ensembl chrNW_004955416:9,784,260...9,798,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11815
    Pathological Conditions, Signs and Symptoms 7109
      Signs and Symptoms 4351
        Skin Manifestations 123
          Jaundice 26
            obstructive jaundice 16
              Familial Obstructive Jaundice of Infancy 0
              hereditary spherocytosis + 9
Path 2
Term Annotations click to browse term
  disease 11815
    Developmental Diseases 8416
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7381
        genetic disease 6958
          inherited metabolic disorder 1892
            bilirubin metabolic disorder 46
              Jaundice 26
                obstructive jaundice 16
                  Familial Obstructive Jaundice of Infancy 0
                  hereditary spherocytosis + 9
paths to the root

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