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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Cholangitis
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Accession:HP:0030151 term browser browse the term
Definition:Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
Comment:Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis.
Synonyms:exact_synonym: Bile duct inflammation
 xref: SNOMEDCT_US:82403002;   UMLS:C0008311



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Cholangitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:369942 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO ORPHA:369942 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565
JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO MIM:124000 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G IL21R interleukin 21 receptor IAGP HPO MIM:615207 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO MIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:53035 ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO MIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:613610 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO ORPHA:538934 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
Sclerosing cholangitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
JBrowse link
G CD40LG CD40 ligand IAGP HPO MIM:308230 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CLDN1 claudin 1 IAGP HPO MIM:607626 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO MIM:617394 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO MIM:243700 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G KIF12 kinesin family member 12 IAGP HPO MIM:619662 NCBI chr 9:114,091,638...114,099,292
Ensembl chr 9:114,086,126...114,099,292
JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO MIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
JBrowse link
G RFX5 regulatory factor X5 IAGP HPO ORPHA:572 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO ORPHA:572 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO ORPHA:572 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the immune system 10734
        Abnormality of immune system physiology 8021
          Abnormal inflammatory response 5904
            Increased inflammatory response 5877
              Cholangitis 341
                Granulomatous cholangitis 0
                Lymphoid cholangitis 0
                Pleomorphic cholangitis 0
                Sclerosing cholangitis 327
                Suppurative cholangitis 0
Path 2
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the digestive system 10591
        Abnormality of the abdominal organs 3314
          Abnormality of the liver 2680
            Abnormality of the biliary system 1359
              Biliary tract abnormality 765
                Abnormal biliary tract morphology 751
                  Cholangitis 341
                    Granulomatous cholangitis 0
                    Lymphoid cholangitis 0
                    Pleomorphic cholangitis 0
                    Sclerosing cholangitis 327
                    Suppurative cholangitis 0
paths to the root