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. [ ]
Term info
Alagille Syndrome
- Alagille Syndrome
- Arteriohepatic Dysplasia
NCIT_C99147, NCIT_C90259
NICHD
http://purl.obolibrary.org/obo/NCIT_C3101
Alagille_Syndrome
Alagille Syndrome
Alagille Syndrome
Disease or Syndrome
C0085280
C35139