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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 2
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Accession:DOID:9008932 term browser browse the term
Synonyms:exact_synonym: OMIM:610205
 broad_synonym: NOTCH2-RELATED CONDITION
 primary_id: ALGS2


show annotations for term's descendants           Sort by:
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 chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Alagille syndrome 12
        ALAGILLE SYNDROME 2 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        hepatobiliary disease 2899
          biliary tract disease 519
            bile duct disease 476
              cholestasis 331
                intrahepatic cholestasis 137
                  Alagille syndrome 12
                    ALAGILLE SYNDROME 2 1
paths to the root