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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;   MONDO:0007318;   NCI:C35139;   OMIM:PS118450;   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 ANKEF1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,958,165...18,979,703
Ensembl chr17:18,958,165...18,980,560 		JBrowse link
G HAO1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,746,153...16,802,460
Ensembl chr17:16,744,442...16,802,442 		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 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: Arteriohepatic dysplasia | ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC		 ClinVar PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G LAMP5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,434,106...18,452,689
Ensembl chr17:18,434,658...18,452,927 		JBrowse link
G MKKS MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,341,636...19,362,871 		JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 ClinVar PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 More... NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G PAK5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,461,060...18,785,869
Ensembl chr17:18,461,062...18,785,313 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,915,984...18,402,540
Ensembl chr17:17,916,110...18,402,532 		JBrowse link
G SLX4IP SLX4 interacting protein ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,363,727...19,578,132 JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576 		JBrowse link
G TMX4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,834,869...16,881,328
Ensembl chr17:16,831,932...16,881,350 		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 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,958,165...18,979,703
Ensembl chr17:18,958,165...18,980,560 		JBrowse link
G HAO1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,746,153...16,802,460
Ensembl chr17:16,744,442...16,802,442 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 OMIM
ClinVar		 PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G LAMP5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,434,106...18,452,689
Ensembl chr17:18,434,658...18,452,927 		JBrowse link
G MKKS MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,341,024...19,363,007
Ensembl chr17:19,341,636...19,362,871 		JBrowse link
G PAK5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:18,461,060...18,785,869
Ensembl chr17:18,461,062...18,785,313 		JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:17,915,984...18,402,540
Ensembl chr17:17,916,110...18,402,532 		JBrowse link
G SLX4IP SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,363,727...19,578,132 JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More... NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576 		JBrowse link
G TMX4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:28492532 PMID:32733715 NCBI chr17:16,834,869...16,881,328
Ensembl chr17:16,831,932...16,881,350 		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 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Alagille syndrome 12
        ALAGILLE SYNDROME 1 11
        ALAGILLE SYNDROME 2 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      gastrointestinal system disease 6423
        hepatobiliary disease 2862
          biliary tract disease 511
            bile duct disease 467
              cholestasis 327
                intrahepatic cholestasis 137
                  Alagille syndrome 12
                    ALAGILLE SYNDROME 1 11
                    ALAGILLE SYNDROME 2 1
paths to the root