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: intrahepatic cholestasis of pregnancy
Accession: DOID:0070227
browse the term
Definition: An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. (DO)
Synonyms: exact_synonym: ICP; cholestasis of pregnancy; familial intrahepatic cholestasis of pregnancy; familial recurrent intrahepatic cholestasis of pregnancy; gravidic intrahepatic cholestasis; obstetric cholestasis; pregnancy related cholestasis; recurrent intrahepatic cholestasis of pregnancy
primary_id: MESH:C535932
xref: EFO:0009048 ; GARD:9804 ; ORDO:69665
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Abcb4
ATP binding cassette subfamily B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Hdac3
histone deacetylase 3
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Il18
interleukin 18
severity
ISO
RGD
PMID:28697498
RGD:14696655
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23627780
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28851649
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Atp8b1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1
OMIM ClinVar
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 PMID:20981092 PMID:22525741 PMID:22995991 PMID:24033266 PMID:24260417 PMID:25741868 PMID:26126923 PMID:28492532 PMID:28733223 PMID:28924228 PMID:29238877 PMID:32650689 PMID:32695736 PMID:33223529 PMID:35894240 More...
NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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Abcb11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 PMID:16039748 PMID:16871584 PMID:17855769 PMID:18395098 PMID:18692205 PMID:19101985 PMID:19750581 PMID:20232290 PMID:20583290 PMID:20683201 PMID:23022423 PMID:23279303 PMID:23750872 PMID:24231640 PMID:24339557 PMID:24402531 PMID:25741868 PMID:26126923 PMID:26858187 PMID:27050426 PMID:27153395 PMID:27426735 PMID:28492532 PMID:28733223 PMID:29104077 PMID:29412511 PMID:29992621 PMID:30091450 PMID:30934130 PMID:31538484 PMID:31745229 PMID:32309332 PMID:32581362 PMID:32808743 PMID:34016879 More...
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3
OMIM ClinVar
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 PMID:12624161 PMID:12746424 PMID:12891548 PMID:14999697 PMID:15077010 PMID:16199547 PMID:16696816 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18083082 PMID:18482588 PMID:19018976 PMID:19185004 PMID:19261551 PMID:19467940 PMID:19490418 PMID:19584064 PMID:19840255 PMID:20042859 PMID:20422496 PMID:20537830 PMID:20849526 PMID:21119540 PMID:22331132 PMID:22675952 PMID:23022423 PMID:23217326 PMID:23533021 PMID:23820649 PMID:24033266 PMID:24381502 PMID:24723470 PMID:24806754 PMID:24914347 PMID:25133187 PMID:25741868 PMID:25755532 PMID:25807286 PMID:26126923 PMID:26153658 PMID:26324191 PMID:26474921 PMID:26699824 PMID:26823041 PMID:26900700 PMID:27256251 PMID:28012258 PMID:28039895 PMID:28355206 PMID:28492532 PMID:28587926 PMID:28733223 PMID:28776642 PMID:28924228 PMID:29238877 PMID:29761167 PMID:31000363 PMID:31130284 PMID:31538484 PMID:31625567 PMID:31728073 PMID:32321542 PMID:32581362 PMID:32626542 PMID:32893960 PMID:32917322 PMID:33201677 PMID:33390354 PMID:33742171 PMID:33915153 PMID:34016879 PMID:34376370 PMID:34942279 PMID:34961929 PMID:35288833 PMID:35626323 PMID:35741809 PMID:35894240 PMID:35922258 PMID:36277956 More...
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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