loading...| Preferred Name | Marfan syndrome | |
| Synonyms |
Marfan's syndrome |
|
| Definitions |
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14323 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Marfan's syndrome |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:19346006 OMIM:154700 UMLS_CUI:C0024796 ICD10CM:Q87.4 ICD9CM:759.82 MESH:D008382 GARD:6975 NCI:C34807 |
|
| definition |
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. OMIM mapping confirmed by DO. [SN]. |
|
| disease has location | ||
| has close match |
MESH:D008382 |
|
| has exact match |
MESH:D008382 |
|
| has exact synonym |
Marfan's syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14323 |
|
| in_subset | ||
| label |
Marfan syndrome |
|
| notation |
DOID:14323 |
|
| note |
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
Marfan syndrome |
|
| prefLabel |
Marfan syndrome |
|
| subClassOf |
http://uri.neuinfo.org/nif/nifstd/birnlex_12797 http://purl.obolibrary.org/obo/DOID_5614 |