| D008382 |
Marfan Syndrome |
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome |
|
| D001827 |
Body Height |
The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. |
Body Heights,Height, Body,Heights, Body |
|
| D002648 |
Child |
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. |
Children |
|
| D004108 |
Dilatation, Pathologic |
The condition of an anatomical structure's being dilated beyond normal dimensions. |
Ectasia,Dilatation, Pathological,Dilatations, Pathologic,Dilatations, Pathological,Pathologic Dilatation,Pathologic Dilatations,Pathological Dilatation,Pathological Dilatations |
|
| D006331 |
Heart Diseases |
Pathological conditions involving the HEART including its structural and functional abnormalities. |
Cardiac Disorders,Heart Disorders,Cardiac Diseases,Cardiac Disease,Cardiac Disorder,Heart Disease,Heart Disorder |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D001011 |
Aorta |
The main trunk of the systemic arteries. |
Aortas |
|
| D013177 |
Sports |
Activities or games, usually involving physical effort or skill. Reasons for engagement in sports include pleasure, competition, and/or financial reward. |
Athletics,Athletic,Sport |
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