Term Name: X-linked cardiac valvular dysplasia
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 )

Relationships
is a type of: heart valve disease X-linked monogenic disease