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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:biliary atresia
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Accession:DOID:13608 term browser browse the term
Definition:Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE.
Synonyms:exact_synonym: Atresia of bile duct;   Congenital biliary atresia;   Extrahepatic Biliary Atresia;   Extrahepatic Biliary Atresias;   Familial Extrahepatic Biliary Atresia;   Idiopathic Extrahepatic Biliary Atresia
 primary_id: MESH:D001656
 alt_id: OMIM:210500;   RDO:0004373
 xref: GARD:12010;   ICD10CM:Q44.2;   ICD9CM:751.61;   NCI:C34421;   ORDO:30391
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
biliary atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO 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
JBrowse link
G Cd14 CD14 molecule disease_progression ISO mRNA, protein:increased expression:liver, plasma: RGD PMID:21172039 RGD:7184431 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:14743499 RGD:1625622 NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:29056230 RGD:14701039 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gli2 GLI family zinc finger 2 disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16627878 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility ISO DNA:missense mutation:cds:p.G241R (human) RGD PMID:18401716 RGD:14402043 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)
protein:increased expression:serum:
RGD PMID:30059753, PMID:10726686 RGD:14695528, RGD:14695529 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Mir145 microRNA 145 IEP miRNA:decreased expression:liver (human) RGD PMID:28902846 RGD:15039396 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:liver RGD PMID:28355202, PMID:27817193 RGD:24922206, RGD:25671379 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA:decreased expression:liver (human) RGD PMID:25487473 RGD:12832754 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Shh sonic hedgehog signaling molecule disease_progression ISO RGD PMID:25746691 RGD:12802349 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Sox17 SRY-box transcription factor 17 ISS MouseDO NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 disease_progression ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 3:111,049,132...111,061,991
Ensembl chr 3:111,049,118...111,062,011
JBrowse link
G Spint2 serine peptidase inhibitor, Kunitz type, 2 ISO mRNA,protein:increased expression:liver: RGD PMID:21898507 RGD:10043111 NCBI chr 1:87,199,373...87,221,826
Ensembl chr 1:87,199,313...87,221,892
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15845635 RGD:1581370 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30686515 RGD:14985228 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      gastrointestinal system disease 4673
        Digestive System Abnormalities 470
          biliary atresia 17
            Ichthyosis Congenita with Biliary Atresia 0
            Lambert Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      gastrointestinal system disease 4673
        hepatobiliary disease 2486
          biliary tract disease 437
            bile duct disease 407
              cholestasis 312
                biliary atresia 17
                  Ichthyosis Congenita with Biliary Atresia 0
                  Lambert Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.