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AttributesValues
rdf:type
rdfs:label
  • Alagille Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Alagille Syndrome
UMLS_CUI
  • C0085280
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Alagille_Syndrome
FULL_SYN
  • Arteriohepatic DysplasiaSYNCI
  • Arteriohepatic DysplasiaPTNICHD
  • Alagille SyndromePTNCI
DEFINITION
  • 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.NCI
code
  • C35139
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