About: Marfan Syndrome

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About: Marfan Syndrome Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Class
rdfs:label	Marfan Syndrome
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder Hereditary Connective Tissue Disorder
Has_NICHD_Parent	Hereditary Connective Tissue Disorder Autosomal Dominant Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Marfan Syndrome
UMLS_CUI	C0024796
Contributing_Source	NICHD
ALT_DEFINITION	A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast." It is inherited as an autosomal dominant trait.MSH2003_2003_05_12
Legacy_Concept_Name	Marfan_s_Syndrome
FULL_SYN	Marfan SyndromePTNCI Marfan's SyndromeSYNCI Marfan's SyndromePTNICHD
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
code	C34807
is rdfs:subClassOf of	Marfan Syndrome Type II

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