Alagille syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ALAGILLE SYNDROME
MONDO:0007318
NOTCH2 Unknown
11171333 15307138 16773578 22209762 26858187 28776642 31343788 33077891 36201396 36447191 36458146
Disgenet
ALAGILLE SYNDROME 1
118450
JAG1 Unknown — HPO
ALAGILLE SYNDROME 2
610205
NOTCH2 Unknown — HPO
ALAGILLE SYNDROME DUE TO A JAG1 POINT MUTATION
MONDO:0016862
JAG1 Causal
35761784
CTD
ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION
MONDO:0012439
NOTCH2 Causal — GenCC