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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;   ICD10CM:Q44.7;   NCI:C35139;   OMIM:PS118450;   ORDO:52
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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
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:8554872
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:1580762
G Slx4ip SLX4 interacting protein JBrowse link 3 129,884,871 130,069,371 RGD:8554872
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:8554872

Term paths to the root
Path 1
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  disease 16022
    syndrome 6143
      Alagille syndrome 5
Path 2
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  disease 16022
    disease of anatomical entity 15275
      gastrointestinal system disease 4615
        hepatobiliary disease 2468
          biliary tract disease 432
            bile duct disease 401
              cholestasis 306
                intrahepatic cholestasis 119
                  Alagille syndrome 5
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.