| Metadata | |
|---|---|
| ID | DOID:14323 |
| Name | Marfan syndrome |
| 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. https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance, https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807, https://rarediseases.org/rare-diseases/marfan-syndrome/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:19346006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Marfan's syndrome [EXACT] |
| Parent Relationships |
is_a connective tissue disease is_a eye disease is_a aortic disease |