loading...| Preferred Name | Marfan Syndrome [Disease/Finding] | |
| Synonyms |
Marfan Syndrome Marfan's Syndrome Marfan Syndrome, Type I |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001945 |
|
| altLabel |
Marfan Syndrome Marfan's Syndrome Marfan Syndrome, Type I |
|
| cui |
C0024796 |
|
| MESH DEFINITION |
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. |
|
| MESH DUI |
D008382 |
|
| MeSH name |
Marfan Syndrome |
|
| MESH UI |
M0013029 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001945 |
|
| NUI |
N0000001945 |
|
| prefLabel |
Marfan Syndrome [Disease/Finding] |
|
| SNOMED CID |
19346006 |
|
| tui |
T047 |
|
| subClassOf |