Alagille syndrome due to a JAG1 point mutation
Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0007318
Alagille syndrome
is_a
ALGS1
related
Alagille syndrome 1
related
Alagille syndrome due to a JAG1 point mutation
exact
Alagille syndrome type 1
exact
Alagille syndrome-JAG1
exact
Alagille-Watson syndrome due to a JAG1 point mutation
exact
arteriohepatic dysplasia due to a JAG1 point mutation
exact
syndromic bile duct paucity due to a JAG1 point mutation
exact