loading...| Preferred Name |
Marfan Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34807 |
| ALT_DEFINITION |
An autosomal-dominant genetic syndrome caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, pectus excavatum, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. 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. |
| code |
C34807 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118468 |
| Contributing_Source |
NICHD |
| 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. |
| FULL_SYN |
Marfan's Syndrome |
| Has_NICHD_Parent | |
| label |
Marfan Syndrome |
| Legacy_Concept_Name |
Marfan_s_Syndrome |
| NICHD_Hierarchy_Term |
Marfan Syndrome |
| Preferred_Name |
Marfan Syndrome |
| prefixIRI |
C34807 |
| prefLabel |
Marfan Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0024796 |
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97075 |