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: Jaundice
Accession: DOID:9004898
browse the term
Definition: A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Synonyms: exact_synonym: Hemolytic Jaundice; Hemolytic Jaundices; Icterus
primary_id: MESH:D007565 ; RDO:0003617
For additional species annotation, visit the
Alliance of Genome Resources .
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with Biliary Atresia; protein:increased expression:serum
RGD
PMID:21356120
RGD:5686894
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Ccl25
C-C motif chemokine ligand 25
IEP
mRNA:decreased expression:ileum
RGD
PMID:18592157
RGD:5130926
NCBI chr12:2,429,492...2,438,928
Ensembl chr12:2,429,509...2,438,817
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Cplane1
ciliogenesis and planar polarity effector 1
ISO
ClinVar Annotator: match by term: Jaundice
ClinVar
PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532
NCBI chr 2:57,274,175...57,350,003 NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
RGD
PMID:8502229
RGD:11576308
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
IEP
mRNA:decreased expression:liver
RGD
PMID:18442205 , PMID:8502229
RGD:2303375 , RGD:11576308
NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
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Fech
ferrochelatase
ISO
ClinVar Annotator: match by term: Jaundice
ClinVar
PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:17875872 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505
NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
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Hbb
hemoglobin subunit beta
ISO
RGD
PMID:10870887
RGD:1600896
NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
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Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:lung (rat)
RGD
PMID:19034056
RGD:4145521
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
treatment
ISO IAGP
RGD
PMID:19585550 , PMID:20323028
RGD:13432069 , RGD:1354701
NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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Ugt1a1j
UDP glucuronosyltransferase family 1 member A1, jaundice mutant
IAGP
RGD
PMID:20323028
RGD:1354701
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Ank1
ankyrin 1
severity
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 chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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Dhodh
dihydroorotate dehydrogenase (quinone)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
PMID:1558976
RGD:1598910
NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
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Klf1
Kruppel like factor 1
ISO ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human)
MouseDO
PMID:20691777
RGD:10769342
NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
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Olr1597
olfactory receptor 1597
ISO
ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar
NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
DNA:duplication:cds: (human) ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism 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)
ClinVar CTD
PMID:1378323 , PMID:8282779 , PMID:9326249 , PMID:9207478 , PMID:8547122
RGD:1599007 , RGD:10450510 , RGD:10450506 , RGD:10450491
NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Spta1
spectrin, alpha, erythrocytic 1
ISO
DNA:polymorphisms:introns,exon: ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar Annotator: match by term: Spherocytosis, Recessive DNA:deletion:cds:
ClinVar
PMID:25741868 PMID:28492532 , PMID:15384986 , PMID:11920196
RGD:11059521 , RGD:11059522
NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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Sptb
spectrin, beta, erythrocytic
ISO
mRNA:decreased expression:erythrocyte: ClinVar Annotator: match by term: Spherocytosis, Dominant CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 , PMID:19538529
RGD:11059526
NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
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Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
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Add2
adducin 2
ISS
OMIM:182900
MouseDO
NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
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Ank1
ankyrin 1
ISO
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1 ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive ClinVar Annotator: match by OMIM:182900
OMIM ClinVar
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 chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
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Epb42
erythrocyte membrane protein band 4.2
ISS
OMIM:182900
MouseDO
NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
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Spta1
spectrin, alpha, erythrocytic 1
ISS
OMIM:182900
MouseDO
NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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Sptb
spectrin, beta, erythrocytic
ISO
ClinVar Annotator: match by term: Spherocytosis type 2 ClinVar Annotator: match by term: Spectrin kissimmee 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 chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
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Olr1597
olfactory receptor 1597
ISO
ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar
NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
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Spta1
spectrin, alpha, erythrocytic 1
ISO
ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive ClinVar Annotator: match by OMIM:270970
OMIM ClinVar
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:32581362
NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Spherocytosis type 4 ClinVar Annotator: match by OMIM:612653
OMIM ClinVar
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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Spherocytosis type 5 ClinVar Annotator: match by OMIM:612690
OMIM ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:10406914 PMID:12176912 PMID:19508687 PMID:25741868 PMID:28492532
NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
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Blvra
biliverdin reductase A
ISO
ClinVar Annotator: match by OMIM:614156 ClinVar Annotator: match by term: Hyperbiliverdinemia
OMIM ClinVar
PMID:19580635 PMID:21278388 PMID:25741868
NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22022477
NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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Adm
adrenomedullin
IEP
protein:increased expression:plasma:
RGD
PMID:20132852
RGD:7364952
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
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Alb
albumin
IEP
RGD
PMID:9161836
RGD:11036102
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:15573249
RGD:8549649
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd14
CD14 molecule
IEP
mRNA:increased expression:ileum, liver, lung, spleen
RGD
PMID:25093541
RGD:9685190
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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Cfh
complement factor H
IEP
protein:decreased expression:plasma:
RGD
PMID:20132852
RGD:7364952
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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Hmbs
hydroxymethylbilane synthase
EXP
Protein:increased activity:liver (rat)
RGD
PMID:3963818
RGD:4144803
NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
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Hmgb1
high mobility group box 1
IEP
protein:increased expression:liver, plasma
RGD
PMID:21737101
RGD:10402168
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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Irf5
interferon regulatory factor 5
IEP
mRNA,protein:increased expression:liver,nucleus:
RGD
PMID:21737101
RGD:10402168
NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
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Lbp
lipopolysaccharide binding protein
IEP
mRNA:increased expression:liver
RGD
PMID:25093541
RGD:9685190
NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
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Pcna
proliferating cell nuclear antigen
treatment
IEP
RGD
PMID:12917765
RGD:10448973
NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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Tlr2
toll-like receptor 2
treatment
ISO
RGD
PMID:29366780
RGD:15090858
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Ucp2
uncoupling protein 2
IEP
RGD
PMID:19632092
RGD:7204429
NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
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