Alagille syndrome due to a JAG1 point mutation

MONDO:0016862

Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys.

Also known as: Alagille syndrome due to a JAG1 point mutation, Alagille syndrome type 1, Alagille syndrome-JAG1, 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, ALGS1, Alagille syndrome 1

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