ONTOLOGY REPORT - ANNOTATIONS

Term:Alagille Syndrome
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Accession:RDO:0000024 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 Watson Syndromes;   Arteriohepatic Dysplasia;   Arteriohepatic Dysplasias;   Cardiovertebral Syndrome;   Cardiovertebral Syndromes;   Cholestasis with Peripheral Pulmonary Stenosis;   Hepatic Ductular Hypoplasia;   Hepatic Ductular Hypoplasia, Syndromatic;   Hepatic Ductular Hypoplasias;   Hepatofacioneurocardiovertebral Syndrome;   Hepatofacioneurocardiovertebral Syndromes;   Paucity of Interlobular Bile Ducts;   Watson-Miller syndrome
 primary_id: MESH:D016738
 alt_id: OMIM:118450;   OMIM:601920;   OMIM:610205

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Alagille Syndrome term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:6482232 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:1580651 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:6482237 RGD
G Jag1 jagged 1 GBrowse link ISS 3 125,181,063 125,216,481 RGD:7240710 OMIM
G Notch2 notch 2 GBrowse link ISS 2 192,839,350 192,986,589 RGD:1580762 RGD
G Notch2 notch 2 GBrowse link ISS 2 192,839,350 192,986,589 RGD:7240710 OMIM
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Path 1
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  Diseases 30711
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 3912
      Genetic Diseases, Inborn 2880
        Alagille Syndrome 6
Path 2
Term Annotations click to browse term
  Diseases 30711
    Digestive System Diseases 2266
      Biliary Tract Diseases 191
        Bile Duct Diseases 114
          Cholestasis 83
            Cholestasis, Intrahepatic 42
              Alagille Syndrome 6
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