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Metadata
DOID 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

GARD:6975

ICD10CM:Q87.4

ICD10CM:Q87.40

ICD9CM:759.82

MESH:D008382

NCI:C34807

OMIM:154700

SNOMEDCT_US_2018_03_01:19346006

UMLS_CUI:C0024796

Subsets

NCIthesaurus

Synonyms

Marfan's syndrome [EXACT]

Relationships

is_a connective tissue disease

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