Disease_Mapped_To_Gene Cellosaurus Disease Terminology Syndrome Alagille Syndrome Alagille Syndrome Disease or Syndrome Cellosaurus An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation. Alagille Syndrome Alagille_Syndrome C0085280 Arteriohepatic Dysplasia C35139 NICHD JAG1 Gene NICHD Terminology Neonatal Research Network Terminology