ONTOLOGY REPORT - ANNOTATIONS

Term:Cholestasis
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Accession:RDO:0000391 term browser browse the term
Definition:Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).
Synonyms:exact_synonym: Bile Duct Obstruction;   Bile Duct Obstructions;   Biliary Stases;   Biliary Stasis;   Cholestases
 primary_id: MESH:D002779

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Cholestasis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcb11 ATP-binding cassette, subfamily B (MDR/TAP), member 11 IED RGD:1598571 RGD
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B GBrowse link IEP 4 21,829,489 21,912,239 RGD:1598589 RGD
G Abcb4 ATP-binding cassette, subfamily B (MDR/TAP), member 4 GBrowse link Model IEP 4 21,946,274 22,004,328 RGD:1598589 RGD
G Abcc2 ATP-binding cassette, subfamily C (CFTR/MRP), member 2 IAGP RGD:1598571 RGD
G Abcc2 ATP-binding cassette, subfamily C (CFTR/MRP), member 2 IEP RGD:1598614 RGD
G Abcc3 ATP-binding cassette, subfamily C (CFTR/MRP), member 3 GBrowse link IEP 10 82,986,552 83,030,799 RGD:2301060 RGD
G Abcc4 ATP-binding cassette, subfamily C (CFTR/MRP), member 4 GBrowse link IEP 15 103,384,848 103,611,238 RGD:2301085 RGD
G Abcg5 ATP-binding cassette, subfamily G (WHITE), member 5 GBrowse link IEP 6 8,027,647 8,064,425 RGD:1598662 RGD
G Abcg8 ATP-binding cassette, subfamily G (WHITE), member 8 GBrowse link IEP 6 8,064,631 8,083,271 RGD:1598662 RGD
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide GBrowse link IEP 2 235,979,108 235,991,515 RGD:5129088 RGD
G Apoe apolipoprotein E GBrowse link ISS 1 79,003,634 79,006,387 RGD:2317548 RGD
G Arg1 arginase, liver GBrowse link IEP 1 20,998,894 21,011,275 RGD:4143230 RGD
G Cat catalase GBrowse link IED 3 88,654,077 88,686,212 RGD:5130873 RGD
G Cd14 CD14 molecule GBrowse link IEP 18 29,374,593 29,376,190 RGD:7183752 RGD
G Cd44 Cd44 molecule GBrowse link IEP 3 88,022,962 88,110,352 RGD:2289372 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link IEP 4 43,874,852 44,041,870 RGD:1599598 RGD
G Cirh1a cirrhosis, autosomal recessive 1A (cirhin) GBrowse link ISS 19 36,742,206 36,770,285 RGD:1600653 RGD
G G6pd glucose-6-phosphate dehydrogenase GBrowse link IEP X 160,186,450 160,192,316 RGD:2307352 RGD
G Hp haptoglobin GBrowse link IEP 19 39,443,016 39,447,566 RGD:1626374 RGD
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 GBrowse link ISS 1 187,085,808 187,089,078 RGD:737780 RGD
G Il1a interleukin 1 alpha GBrowse link IEP 3 116,913,612 116,924,114 RGD:2311076 RGD
G Il4 interleukin 4 GBrowse link IEP 10 39,074,582 39,080,134 RGD:2317270 RGD
G Lgals1 lectin, galactoside-binding, soluble, 1 GBrowse link IEP 7 116,893,662 116,896,768 RGD:2316551 RGD
G Maob monoamine oxidase B GBrowse link IEP X 17,553,529 17,657,852 RGD:2307352 RGD
G Otc ornithine carbamoyltransferase GBrowse link IEP X 24,609,141 24,685,341 RGD:4143230 RGD
G Pygm phosphorylase, glycogen, muscle GBrowse link IED 1 209,166,701 209,181,588 RGD:1599990 RGD
G Slco1b3 solute carrier organic anion transporter family, member 1b3 GBrowse link IEP 4 179,045,586 179,118,680 RGD:2303109 RGD
G Timp1 TIMP metallopeptidase inhibitor 1 GBrowse link IEP X 12,542,496 12,547,094 RGD:2290364 RGD
G Tjp1 tight junction protein 1 GBrowse link IEP 1 119,684,774 119,750,532 RGD:2325141 RGD
G Vps33b vacuolar protein sorting 33 homolog B (yeast) GBrowse link ISS 1 136,085,931 136,109,421 RGD:1599749 RGD
Alagille Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:6482232 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:1580651 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:6482237 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:7240710 OMIM
G Notch2 notch 2 GBrowse link ISS 2 192,839,350 192,986,589 RGD:1580762 RGD
G Notch2 notch 2 GBrowse link ISS 2 192,839,350 192,986,589 RGD:7240710 OMIM
Arthrogryposis renal dysfunction cholestasis syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Vps33b vacuolar protein sorting 33 homolog B (yeast) GBrowse link ISS 1 136,085,931 136,109,421 RGD:7240710 OMIM
Bile acid synthesis defect, congenital, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 GBrowse link ISS 1 187,085,808 187,089,078 RGD:7240710 OMIM
Bile acid synthesis defect, congenital, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Akr1d1 aldo-keto reductase family 1, member D1 GBrowse link ISS 4 64,972,908 65,005,896 RGD:7240710 OMIM
Bile acid synthesis defect, congenital, 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Amacr alpha-methylacyl-CoA racemase GBrowse link ISS 2 60,332,292 60,344,326 RGD:7240710 OMIM
Cholestasis, benign recurrent intrahepatic 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atp8b1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 GBrowse link ISS 18 60,748,738 60,829,650 RGD:7240710 OMIM
Cholestasis, benign recurrent intrahepatic 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcb11 ATP-binding cassette, subfamily B (MDR/TAP), member 11 ISS RGD:7240710 OMIM
Cholestasis, Extrahepatic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Crh corticotropin releasing hormone GBrowse link IEP 2 104,764,023 104,765,887 RGD:5490980 RGD
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) GBrowse link IEP 2 193,128,736 193,143,106 RGD:2326121 RGD
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 GBrowse link IED 7 26,189,759 26,307,061 RGD:1625205 RGD
Cholestasis, Intrahepatic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcb11 ATP-binding cassette, subfamily B (MDR/TAP), member 11 Susceptibility ISS RGD:1598583 RGD
G Abcb4 ATP-binding cassette, subfamily B (MDR/TAP), member 4 GBrowse link Susceptibility ISS 4 21,946,274 22,004,328 RGD:1300324 RGD
G Abcb4 ATP-binding cassette, subfamily B (MDR/TAP), member 4 GBrowse link ISS 4 21,946,274 22,004,328 RGD:1300325 RGD
G Abcb4 ATP-binding cassette, subfamily B (MDR/TAP), member 4 GBrowse link ISS 4 21,946,274 22,004,328 RGD:1300324 RGD
G Atp8b1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 GBrowse link Susceptibility ISS 18 60,748,738 60,829,650 RGD:1599397 RGD
G Cxcl2 chemokine (C-X-C motif) ligand 2 GBrowse link IEP 14 18,677,129 18,679,175 RGD:5135233 RGD
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 GBrowse link ISS 1 187,085,808 187,089,078 RGD:1599971 RGD
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 GBrowse link IEP 5 151,524,685 151,528,000 RGD:2311605 RGD
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 GBrowse link IED 7 26,189,759 26,307,061 RGD:1625202 RGD
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 GBrowse link ISS 7 26,189,759 26,307,061 RGD:1580984 RGD
Cholestasis, intrahepatic of pregnancy term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcb4 ATP-binding cassette, subfamily B (MDR/TAP), member 4 GBrowse link ISS 4 21,946,274 22,004,328 RGD:7240710 OMIM
G Atp8b1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 GBrowse link ISS 18 60,748,738 60,829,650 RGD:7240710 OMIM
Cholestasis, progressive familial intrahepatic 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atp8b1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 GBrowse link ISS 18 60,748,738 60,829,650 RGD:7240710 OMIM
Cholestasis, progressive familial intrahepatic 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcb11 ATP-binding cassette, subfamily B (MDR/TAP), member 11 ISS RGD:7240710 OMIM
Cholestasis, progressive familial intrahepatic 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcb4 ATP-binding cassette, subfamily B (MDR/TAP), member 4 GBrowse link ISS 4 21,946,274 22,004,328 RGD:7240710 OMIM
COACH syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rpgrip1l Rpgrip1-like GBrowse link ISS 19 16,859,114 16,952,054 RGD:7240710 OMIM
G Tmem67 transmembrane protein 67 GBrowse link ISS 5 26,324,625 26,377,531 RGD:7240710 OMIM
Finnish lethal neonatal metabolic syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bcs1l BC1 (ubiquinol-cytochrome c reductase) synthesis-like GBrowse link ISS 9 73,939,024 73,943,055 RGD:7240710 OMIM
Liver Cirrhosis, Biliary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 GBrowse link IEP 10 95,361,338 95,381,455 RGD:2325226 RGD
G Aqp4 aquaporin 4 GBrowse link IEP 18 6,626,313 6,642,766 RGD:5148030 RGD
G Cirh1a cirrhosis, autosomal recessive 1A (cirhin) GBrowse link ISS 19 36,742,206 36,770,285 RGD:1600653 RGD
G Ctgf connective tissue growth factor GBrowse link IEP 1 21,327,099 21,330,215 RGD:2314517 RGD
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 GBrowse link Susceptibility ISS 9 59,495,773 59,501,300 RGD:2301998 RGD
G Dag1 dystroglycan 1 (dystrophin-associated glycoprotein 1) GBrowse link IEP 8 113,470,871 113,483,433 RGD:2314895 RGD
G Nos2 nitric oxide synthase 2, inducible GBrowse link IEP 10 65,036,884 65,072,453 RGD:5509055 RGD
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 GBrowse link ISS 18 32,371,496 32,459,145 RGD:4892607 RGD
G Pde5a phosphodiesterase 5A, cGMP-specific GBrowse link IPM 2 219,410,394 219,550,910 RGD:2314466 RGD
G Ppargc1a peroxisome proliferator-activated receptor gamma, coactivator 1 alpha GBrowse link IEP 14 64,278,115 64,370,912 RGD:6484526 RGD
G Ren renin GBrowse link IEP 13 46,262,936 46,275,213 RGD:6892690 RGD
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 GBrowse link IEP 10 76,657,024 76,698,088 RGD:1642977 RGD
G Sod2 superoxide dismutase 2, mitochondrial GBrowse link ISS 1 41,862,997 41,870,327 RGD:2317411 RGD
G Vdr vitamin D (1,25- dihydroxyvitamin D3) receptor GBrowse link IEA 7 136,567,614 136,617,280 RGD:1331525 RGD
North American Indian Childhood Cirrhosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cirh1a cirrhosis, autosomal recessive 1A (cirhin) GBrowse link ISS 19 36,742,206 36,770,285 RGD:7240710 OMIM
REYNOLDS SYNDROME term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lbr lamin B receptor GBrowse link ISS 13 97,814,439 97,834,860 RGD:7240710 OMIM
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Term Annotations click to browse term
  Diseases 30477
    Digestive System Diseases 2254
      Biliary Tract Diseases 187
        Bile Duct Diseases 110
          Cholestasis 79
            Aagenaes syndrome 0
            Arthrogryposis renal dysfunction cholestasis syndrome 1
            Bile Acid Synthesis Defect, Congenital, 3 0
            Bile acid synthesis defect, congenital, 1 1
            Bile acid synthesis defect, congenital, 2 1
            COACH syndrome 2
            Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
            Cholestasis, Extrahepatic 3
            Cholestasis, Intrahepatic + 40
            Cholesterol pneumonia 0
            Finnish lethal neonatal metabolic syndrome 1
            Hardikar syndrome 0
            Lutz Richner Landolt syndrome 0
            Mirizzi Syndrome 0
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