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Alagille syndrome due to a JAG1 point mutation

ORPHA:261619

Classification level: Subtype of disorder
  • Synonym(s):
    • Alagille-Watson syndrome due to a JAG1 point mutation
    • Arteriohepatic dysplasia due to a JAG1 point mutation
    • Syndromic bile duct paucity due to a JAG1 point mutation
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q44.7
  • ICD-11: LB20.0Y
  • OMIM: 118450
  • UMLS: C5679680
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

This disease is described under Alagille syndrome

Detailed information

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ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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