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DOID:0111765 - X-linked cardiac valvular dysplasia
Disease Ontology 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.
Synonyms: 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,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked disease (is_a),
heart valve disease (is_a)