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Ehlers-Danlos syndrome type 3 MeSH Supplementary Concept Data 2024


MeSH Supplementary
Ehlers-Danlos syndrome type 3
Unique ID
C536196
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536196
Entry Term(s)
Benign hypermobility syndrome
Ehlers-Danlos Syndrome, Hypermobility Type
Ehlers-Danlos Syndrome, Type III
Heading Mapped to
*Ehlers-Danlos Syndrome
Frequency
121
Note
A hypermobility type of Ehlers-Danlos Syndrome (EDS), characterized by hyperxtensibility of the joints, recurrent joint dislocations, and the onset of OSTEOARTHRITIS in the fourth decade of life. MITRAL VALVE PROLAPSE may also be present. Skin abnormalities are less severe than in other forms of the EDS. Mutations in the COL3A1 and the TNXB genes have been identified. OMIM: 130020
Date of Entry
2010/08/25
Revision Date
2015/08/18
Ehlers-Danlos syndrome type 3 Preferred
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