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Alagille syndrome due to a JAG1 point mutation

rare

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

Identifiers
MONDO:0016862 OMIM:118450Orphanet:261619
Causal genes
JAG1
Part of
Alagille syndromeAutosomal dominant disease
Also known as
Alagille syndrome 1 · Alagille syndrome type 1 · Alagille syndrome-JAG1 · Alagille-Watson syndrome due to a JAG1 point mutation · ALGS1

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