Term Name: | X-linked cardiac valvular dysplasia |
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Synonyms: | CVD1, Dystrophie valvulaire associee a FLNA, EDS5, Ehlers-Danlos syndrome, type 5, Filamin A-related X-linked myxomatous valvular dysplasia, FLNA-related valvular dystrophy, FLNA-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. |
Ontology: | Human Disease [DOID:0111765] ( DOID:0111765 ) |