Pediatric Terminology

Last uploaded: January 25, 2013

Preferred Name	Marfan_s_Syndrome
Synonyms
ID	http://www.owl-ontologies.com/Ontology1358660052.owl#Marfan_s_Syndrome
ID	C34807
NCI_Definition	A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
NCI_PT	Marfan Syndrome
NICHD_Definition	_
prefixIRI	Marfan_s_Syndrome
prefLabel	Marfan_s_Syndrome
Subset_Association1	NICHD Pediatric Terminology
Subset_Association2	Neonatal Research Network Terminology
SYN
subClassOf	http://www.owl-ontologies.com/Ontology1358660052.owl#Autosomal_Dominant_Hereditary_Disorder

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/RCD/PKy2.	RCD	LOOM
http://purl.bioontology.org/ontology/ICPC2P/A90003	ICPC2P	LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy2.00	RCTV2	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19346006	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-90800	SNMI	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10026829	MEDDRA	LOOM
http://www.limics.fr/ontologies/ontolurgences#SyndromeDeMarfan	ONTOLURGENCES	LOOM
http://purl.jp/bio/4/id/200906086537666194	IOBC	LOOM
http://www.owl-ontologies.com/OntologyXCT.owl#MarfansSyndrome	CTX	LOOM
http://purl.bioontology.org/ontology/ICD10/Q87.4	ICD10	LOOM