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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:Alagille syndrome
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Accession:DOID:9245 term browser browse the term
Definition:A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. (DO)
Synonyms:exact_synonym: AHD;   ALGS;   AWS;   Alagille Watson Syndrome;   Alagille's syndrome;   Alagilles syndrome;   Arteriohepatic Dysplasia;   Arteriohepatic Dysplasia (AHD);   Cardiovertebral Syndrome;   Cholestasis with Peripheral Pulmonary Stenosis;   Hepatic Ductular Hypoplasia;   Hepatic Ductular Hypoplasia, Syndromatic;   Watson-Miller syndrome;   hepatofacioneurocardiovertebral syndrome;   paucity of interlobular bile ducts
 primary_id: MESH:D016738
 xref: EFO:0004151;   GARD:804;   ICD10CM:Q44.7;   MIM:PS118450;   MONDO:0007318;   NCI:C35139;   ORDO:52


show annotations for term's descendants           Sort by:
Alagille syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO
ISS		 ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
OMIM:118450 | OMIM:610205
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
CTD Direct Evidence: marker/mechanism
DNA:insertion:exon:c.962_963insA (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... RGD:1580651, RGD:6482237, RGD:6482232 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... RGD:1580762 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
ALAGILLE SYNDROME 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankef1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059 		JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation OMIM
ClinVar		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Lamp5 lysosomal-associated membrane protein family, member 5 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Tmx4 thioredoxin-related transmembrane protein 4 ISO ClinVar Annotator: match by term: Alagille syndrome due to a JAG1 point mutation ClinVar PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 More... NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641 		JBrowse link
ALAGILLE SYNDROME 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2 OMIM
ClinVar		 PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    syndrome 11177
      Alagille syndrome 12
        ALAGILLE SYNDROME 1 11
        ALAGILLE SYNDROME 2 1
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      gastrointestinal system disease 7174
        hepatobiliary disease 3113
          biliary tract disease 541
            bile duct disease 497
              cholestasis 344
                intrahepatic cholestasis 145
                  Alagille syndrome 12
                    ALAGILLE SYNDROME 1 11
                    ALAGILLE SYNDROME 2 1
paths to the root