Search Ontology:
Human Disease

X-linked cardiac valvular dysplasia

Term ID
DOID:0111765
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
(all 8)
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
(all 6)
Ontology
Human Disease   ( DOID:0111765 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.