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Disease Ontology Browser
X-linked cardiac valvular dysplasia (DOID:0111765)
Alliance: disease page
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
Alt IDs: OMIM:314400, MESH:C536197, NCI:C141423, ORDO:555877, UMLS_CUI:C0268341
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory