| Metadata | |
|---|---|
| ID | DOID:0111765 |
| Name | X-linked cardiac valvular dysplasia |
| 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. https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/17190868 |
| Xrefs |
SNOMEDCT_US_2023_03_01:67202007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CVD1 [EXACT] Dystrophie valvulaire associee a FLNA [EXACT] EDS5 [EXACT] 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] |
| Parent Relationships |
is_a heart valve disease |