Search Ontology:
Human Disease

X-linked cardiac valvular dysplasia

Term ID
DOID:0111765
Synonyms
  • CVD1
  • Dystrophie valvulaire associee a FLNA
  • EDS 5
  • 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. (2)
References
Ontology
Human Disease   ( DOID:0111765 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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