Disease_Mapped_To_Gene
Cellosaurus Disease Terminology
Cellosaurus Terminology
Syndrome
Alagille Syndrome
Alagille Syndrome
Alagille Syndrome
Alagille_Syndrome
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.
Arteriohepatic Dysplasia
C0085280
C35139
Cellosaurus
Disease or Syndrome
NICHD
JAG1 Gene
NICHD Terminology
Neonatal Research Network Terminology