Terminology Service for NFDI4Health

Alagille Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C35139


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

Label

Alagille Syndrome

Synonyms
  • Alagille Syndrome
  • Arteriohepatic Dysplasia
Subsets

NCIT_C99147, NCIT_C90259

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

Legacy Concept Name

Alagille_Syndrome

NICHD Hierarchy Term

Alagille Syndrome

Preferred Name

Alagille Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0085280

code

C35139

Term relations