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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Alagille syndrome
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Accession:EFO:MONDO:0007318 term browser browse the term
Definition:Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Synonyms:exact_synonym: Arteriohepatic dysplasia;   syndromic bile duct paucity
 related_synonym: Cardiovertebral syndrome;   Hepatofacioneurocardiovertebral syndrome;   Watson Alagille syndrome;   Watson-Miller syndrome;   hepatic ductular hypoplasia;   paucity of interlobular bile ducts
 alt_id: MONDO:0007318
 xref: DOID:9245;   GARD:804;   ICD9:759.89;   MEDGEN:39014;   MESH:D016738;   MIM:PS118450;   MedDRA:10053870;   NANDO:1200918;   NANDO:1200919;   NANDO:2200931;   NCI:C35139;   NORD:748;   ORDO:52;   SCTID:31742004;   UMLS:C0085280

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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Alagille syndrome 0
              Alagille syndrome due to 20p12 microdeletion 0
              Alagille syndrome due to a JAG1 point mutation 0
              Alagille syndrome due to a NOTCH2 point mutation 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              multiple congenital anomalies/dysmorphic syndrome 0
                multiple congenital anomalies/dysmorphic syndrome without intellectual disability 0
                  Alagille syndrome 0
                    Alagille syndrome due to 20p12 microdeletion 0
                    Alagille syndrome due to a JAG1 point mutation 0
                    Alagille syndrome due to a NOTCH2 point mutation 0
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