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 |