ONTOLOGY REPORT - ANNOTATIONS


Term:Alagille syndrome
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Accession:DOID:9245 term browser browse the term
Definition:A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Synonyms:exact_synonym: AHD;   ALGS;   ALGS1;   ALGS2;   AWS;   Alagille Syndrome 1;   Alagille Syndrome 2;   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;   Hepatofacioneurocardiovertebral Syndrome;   Paucity of Interlobular Bile Ducts;   Watson-Miller syndrome
 primary_id: MESH:D016738
 alt_id: OMIM:118450;   OMIM:610205;   RDO:0000024
 xref: GARD:804;   OMIM:PS118450
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Alagille syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:1580651
RGD:8554872
RGD:11554173
RGD:7240710
RGD:6482237
RGD:6482232
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:1580762
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    syndrome 4218
      Alagille syndrome 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      gastrointestinal system disease 4247
        hepatobiliary disease 2357
          biliary tract disease 378
            bile duct disease 347
              cholestasis 264
                intrahepatic cholestasis 96
                  Alagille syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.