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
Accession: DOID:13603
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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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
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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
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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
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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
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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
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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
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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
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HMGB1
high mobility group box 1
ISO
protein:increased expression:liver, plasma
RGD
PMID:21737101
RGD:10402168
NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
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IRF5
interferon regulatory factor 5
ISO
mRNA,protein:increased expression:liver,nucleus:
RGD
PMID:21737101
RGD:10402168
NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
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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
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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
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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
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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
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ANK1
ankyrin 1
severity
ISO
DNA:deletion mutation:exon: ClinVar Annotator: match by term: Spherocytosis, Dominant
RGD ClinVar
PMID:14671619
RGD:11251681
NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
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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
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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
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EPB42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
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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
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LOC100981887
olfactory receptor 10Z1
ISO
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
NCBI chr 1:133,965,449...133,966,390
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SLC4A1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar
NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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SPTA1
spectrin alpha, erythrocytic 1
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 More...
NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
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SPTB
spectrin beta, erythrocytic
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar
PMID:19538529 PMID:25741868 PMID:28492532
NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
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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
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ANK1
ankyrin 1
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
OMIM ClinVar
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 PMID:11167760 PMID:11372755 PMID:12899723 PMID:15071790 PMID:16037067 PMID:17327413 PMID:22573887 PMID:24033266 PMID:25741868 PMID:26830532 PMID:27292444 PMID:27427187 PMID:28492532 PMID:29597199 PMID:31016877 PMID:31122244 PMID:32518793 PMID:32641076 PMID:33116287 More...
NCBI chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
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SPTB
spectrin beta, erythrocytic
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 2
OMIM ClinVar
PMID:7883966 PMID:8844207 PMID:9714702 PMID:11703334 PMID:19538529 PMID:25525159 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28492532 PMID:31602632 PMID:31807509 PMID:32436265 More...
NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
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LOC100981887
olfactory receptor 10Z1
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 3
ClinVar
NCBI chr 1:133,965,449...133,966,390
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SPTA1
spectrin alpha, erythrocytic 1
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
OMIM ClinVar
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:15071791 PMID:15384986 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27292444 PMID:27667160 PMID:28492532 PMID:31038472 PMID:31147440 PMID:31333484 PMID:31723846 PMID:32581362 More...
NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
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SLC4A1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:1722314 PMID:1737855 PMID:2146504 PMID:2196932 PMID:2527366 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8011524 PMID:8206915 PMID:8282779 PMID:8343110 PMID:8434259 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8704215 PMID:9207478 PMID:9312167 PMID:9734643 PMID:9973643 PMID:10403343 PMID:10745622 PMID:10926824 PMID:10942416 PMID:11155072 PMID:11208088 PMID:11380459 PMID:12750988 PMID:14618420 PMID:16107207 PMID:16227998 PMID:16420521 PMID:19229254 PMID:20421175 PMID:21039340 PMID:22126643 PMID:23255290 PMID:24033266 PMID:24652967 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:27058983 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29627839 PMID:30230413 PMID:31672324 PMID:31959358 PMID:33532864 More...
NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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EPB42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Hereditary spherocytosis type 5
OMIM ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:8547071 PMID:10406914 PMID:12176912 PMID:19508687 PMID:25741868 PMID:28492532 More...
NCBI chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
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