FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Marfan syndrome ID (Ontology) DOID:14323 (Human Disease)
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.
Also Known As "Marfan's syndrome"
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Links to External Ontologies
DO.org
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 Genes
 Marfan syndrome       2
 for disease ribbon | Marfan syndrome       2
 model of | Marfan syndrome       2
Spanning Tree (Parents/Children)
Only view relationship: 
sensory system disease
 |__eye disease_________________
artery disease                  |
 |__aortic disease______________|
musculoskeletal system disease  |
 |__connective tissue disease___|
                                Marfan syndrome  2 rec.
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Is a aortic disease
eye disease
connective tissue disease
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Synonyms
  • "Marfan's syndrome" EXACT
Secondary IDs
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GARD:6975
ICD10CM:Q87.4
ICD9CM:759.82
MESH:D008382
MIM:154700
NCI:C34807
SNOMEDCT_US_2023_03_01:19346006
UMLS_CUI:C0024796