FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked cardiac valvular dysplasia ID (Ontology) DOID:0111765 (Human Disease)
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.
Also Known As "CVD1" ; "Dystrophie valvulaire associee a FLNA" ; "EDS5" (for all, see Synonyms field below)
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 Genes
 X-linked cardiac valvular dysplasia       2
 for disease ribbon | X-linked cardiac valvular dysplasia       2
 model of | X-linked cardiac valvular dysplasia       2
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
heart disease                   |
 |__heart valve disease_________|
                                X-linked cardiac valvular dysplasia  2 rec.
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Is a X-linked monogenic disease
heart valve disease
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Synonyms
  • "CVD1" EXACT OMO:0003012
    "Dystrophie valvulaire associee a FLNA" EXACT
    "EDS5" EXACT OMO:0003012
    "Ehlers-Danlos syndrome, type 5" EXACT
    "Filamin A-related X-linked myxomatous valvular dysplasia" EXACT
    "FLNA-related valvular dystrophy" EXACT
    "FLNA-related X-linked myxomatous valvular dysplasia" EXACT
    "XMVD" EXACT OMO:0003012
Secondary IDs
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MESH:C536197
MIM:314400
NCI:C141423
ORDO:555877
SNOMEDCT_US_2023_03_01:67202007
UMLS_CUI:C0268341