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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;   RDO:0000024
 alt_id: OMIM:118450;   OMIM:610205
 xref: GARD:804
For additional species annotation, visit the Alliance of Genome Resources.


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Alagille syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jag1 jagged 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 2 JBrowse link 2 200,187,184 200,320,403 RGD:1580762
RGD:7240710
RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      Alagille syndrome 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      gastrointestinal system disease 4240
        hepatobiliary disease 2351
          biliary tract disease 377
            bile duct disease 346
              cholestasis 263
                intrahepatic cholestasis 96
                  Alagille syndrome 2
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