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X-linked cardiac valvular dysplasia
Summary
- Synonym
-
- CVD1
- Dystrophie valvulaire associee a FLNA
- EDS 5
- Ehlers-Danlos syndrome, type 5
- FLNA-related X-linked myxomatous valvular dysplasia
- FLNA-related valvular dystrophy
- Filamin A-related X-linked myxomatous valvular dysplasia
- XMVD
- Definition
- A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
- Super Class
- X-linked monogenic disease heart valve disease
External Links
- Disease Ontology
- DOID:0111765
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
