About: Alagille Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Alagille Syndrome
rdfs:subClassOf	Syndrome
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
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
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0025493
is sameAs of	Alagille Syndrome

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