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DO Term : X-linked cardiac valvular dysplasia [DOID:0111765] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C0268341,
  • XMVD,
  • Dystrophie valvulaire associee a FLNA,
  • OMIM:314400,
  • ORDO:555877,
  • MESH:C536197,
  • Filamin A-related X-linked myxomatous valvular dysplasia,
  • Ehlers-Danlos syndrome, type 5,
  • EDS5,
  • FLNA-related valvular dystrophy,
  • FLNA-related X-linked myxomatous valvular dysplasia,
  • 314400,
  • SNOMEDCT_US_2023_03_01:67202007,
  • CVD1,
  • NCI:C141423
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