Pediatric Terminology

Last uploaded: January 25, 2013

Preferred Name	Arteriohepatic_Dysplasia
Synonyms
ID	http://www.owl-ontologies.com/Ontology1358660052.owl#Arteriohepatic_Dysplasia
ID	C35139
NCI_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_PT	Alagille Syndrome
NICHD_Definition	_
prefixIRI	Arteriohepatic_Dysplasia
prefLabel	Arteriohepatic_Dysplasia
Subset_Association1	NICHD Pediatric Terminology
Subset_Association2	Neonatal Research Network Terminology
SYN
subClassOf	http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNOMEDCT/31742004	SNOMEDCT	LOOM
	http://purl.bioontology.org/ontology/SNMI/D4-01203	SNMI	LOOM