loading...| Preferred Name | Marfan Syndrome | |
| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Marfan_s_Syndrome |
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| 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. |
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| FULL_SYN |
Marfan's Syndrome |
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| isDefinedBy |
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. |
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| label |
Marfan Syndrome |
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| prefixIRI |
Thesaurus:Marfan_s_Syndrome |
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| prefLabel |
Marfan Syndrome |
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| Synonym |
Marfan's Syndrome |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Connective_Tissue_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |