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MASS syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
MASS syndrome
Unique ID
C536030
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536030
Entry Term(s)
Mass phenotype
Overlap connective tissue disease
Registry Numbers
0
Heading Mapped to
*Mitral Valve Prolapse
*Myopia
*Skin Diseases
Frequency
20
Note
Autosomal dominant disorder of CONNECTIVE TISSUE characterized by myopia, mitral valve prolapse, borderline and non-progressive aortic enlargement, and nonspecific skin and skeletal features (MASS). It can be associated with mutations in the gene encoding FIBRILLIN
Date of Entry
2010/08/25
Revision Date
2012/11/05
MASS syndrome Preferred
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