has characteristic has characteristic has material basis in germline mutation in NOTCH2 Alagille syndrome Alagille syndrome due to a NOTCH2 point mutation https://github.com/monarch-initiative/mondo/issues/8913 https://www.malacards.org/card/alagille_syndrome_2 Alagille-Watson syndrome due to a NOTCH2 point mutation Orphanet:261629 Alagille syndrome type 2 GARD:0017252 Alagille syndrome due to a NOTCH2 point mutation OMIM:610205 Alagille syndrome 2 UMLS:C1857761 ALGS2 A genetic condition caused by pathogenic variants in the NOTCH2 gene upstream of those implicated with Hajdu-Cheney syndrome. The mechanism of pathogenicity for Alagille syndrome appears to be haploinsufficiency. Key features include bile duct paucity, cholestasis, congenital heart defects, butterfly vertebrae, posterior embryotoxon, and distinctive facial characteristics. Renal abnormalities may also be present. Alagille syndrome-NOTCH2 syndromic bile duct paucity due to a NOTCH2 point mutation MEDGEN:341844 MONDO:0012439 Arteriohepatic dysplasia due to a NOTCH2 point mutation point_mutation