loading...| Preferred Name | Marfan Syndrome | |
| Synonyms |
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| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C34807 |
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| ALT_DEFINITION |
An autosomal dominant condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens. 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. Diagnosis is made based on the 2010 Revised Ghent Nosology for Marfan syndrome. |
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| code |
C34807 |
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| Contributing_Source |
Cellosaurus ACC/AHA NICHD |
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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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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C118468 http://purl.obolibrary.org/obo/NCIT_C118467 http://purl.obolibrary.org/obo/NCIT_C165258 |
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| label |
Marfan Syndrome |
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| Legacy Concept Name |
Marfan_s_Syndrome |
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| Preferred_Name |
Marfan Syndrome |
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| prefixIRI |
NCIT:C34807 |
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| prefLabel |
Marfan Syndrome |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0024796 |
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| subClassOf |
http://purl.obolibrary.org/obo/NCIT_C97075 |