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]. |
| database_cross_reference |
OMIM:154700 ICD9CM:759.82 GARD:6975 MESH:D008382 ICD10CM:Q87.4 NCI:C34807 UMLS_CUI:C0024796 SNOMEDCT_US_2022_09_01:19346006 |
| 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. |
| disease has location | |
| 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 |
| prefLabel |
Marfan syndrome |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_5614 |